المؤلفون: van Kuilenburg, Andre B. P., Tarailo-Graovac, Maja, Richmond, Phillip A., Drogemoller, Britt I., Pouladi, Mahmoud A., Leen, Rene, Brand-Arzamendi, Koroboshka, Dobritzsch, Doreen, 1972, Dolzhenko, Egor, Eberle, Michael A., Hayward, Bruce, Jones, Meaghan J., Karbassi, Farhad, Kobor, Michael S., Koster, Janet, Kumari, Daman, Li, Meng, MacIsaac, Julia, McDonald, Cassandra, Meijer, Judith, Nguyen, Charlotte, Rajan-Babu, Indhu-Shree, Scherer, Stephen W., Sim, Bernice, Trost, Brett, Tseng, Laura A., Turkenburg, Marjolein, van Vugt, Joke J. F. A., Veldink, Jan H., Walia, Jagdeep S., Wang, Youdong, van Weeghel, Michel, Wright, Galen E. B., Xu, Xiaohong, Yuen, Ryan K. C., Zhang, Jinqiu, Ross, Colin J., Wasserman, Wyeth W., Geraghty, Michael T., Santra, Saikat, Wanders, Ronald J. A., Wen, Xiao-Yan, Waterham, Hans R., Usdin, Karen, van Karnebeek, Clara D. M.

المصدر: New England Journal of Medicine. 380(15):1433-1441

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-382857

المؤلفون: Tarailo-Graovac M; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Shyr C; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Ross CJ; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Horvath GA; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Salvarinova R; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Ye XC; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Zhang LH; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Bhavsar AP; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Lee JJ; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Drögemöller BI; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Abdelsayed M; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Alfadhel M; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Armstrong L; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Baumgartner MR; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Burda P; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Connolly MB; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Cameron J; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Demos M; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Dewan T; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Dionne J; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Evans AM; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Friedman JM; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Garber I; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Lewis S; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Ling J; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Mandal R; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Mattman A; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, McKinnon M; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Michoulas A; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Metzger D; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Ogunbayo OA; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Rakic B; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Rozmus J; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Ruben P; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Sayson B; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Santra S; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Schultz KR; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Selby K; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Shekel P; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Sirrs S; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Skrypnyk C; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Superti-Furga A; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Turvey SE; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Van Allen MI; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Wishart D; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Wu J; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Wu J; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Zafeiriou D; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Kluijtmans L; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Wevers RA; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Eydoux P; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Lehman AM; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Vallance H; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Stockler-Ipsiroglu S; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Sinclair G; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, Wasserman WW; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen, van Karnebeek CD; From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

المصدر: The New England journal of medicine [N Engl J Med] 2016 Jun 09; Vol. 374 (23), pp. 2246-55. Date of Electronic Publication: 2016 May 25.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Exome*, Genetic Testing/*methods , Metabolism, Inborn Errors/*genetics , Sequence Analysis, DNA/*methods, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genotype ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Metabolism, Inborn Errors/diagnosis ; Phenotype ; Young Adult