المؤلفون: David G. Jackson, Rebecca L. Koch, Surekha Pendyal, Robert Benjamin, Priya S. Kishnani

المصدر: JIMD Reports, Vol 64, Iss 5, Pp 303-311 (2023)

مصطلحات موضوعية: glycogen storage disease, glycogen storage disease Ia, growth hormone therapy, hepatocellular adenoma, von Gierke disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/49c793fbe95e407f919911603cd776fe

المؤلفون: Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100114- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423001140; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/193ab1baaba843d9bdec0a40ad755c5d

المؤلفون: William B. Hannah, Ricardo C. Ong, Margarita Nieto Moreno, Surekha Pendyal, Monica Abdelmalak, Judith Kelsen, Nancy M. McGreal, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100848- (2022)

مصطلحات موضوعية: Glycogen storage disease type 1a, Very early-onset inflammatory bowel, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000088; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/07a200960c8d40debf82d7cb9edde86c

المؤلفون: Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100821- (2021)

مصطلحات موضوعية: Glycogen storage disease type III (GSD III), Hypoglycemia, Cirrhosis, Left ventricular hypertrophy (LVH), Cardiomyopathy, and myopathy, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001166; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/4e0ccde04a5d4a4db4785200b06ae36a

المؤلفون: William B. Hannah, Katherine Ryan, Surekha Pendyal, T. Andrew Burrow, Susan E. Harley, Miranda Cordell, Chad M. McCall, Alisha M. Mavis, Queenie K.‐G. Tan, Priya S. Kishnani

المصدر: American journal of medical genetics. Part AREFERENCES. 188(11)

مصطلحات موضوعية: Cholesterol, Splenomegaly, Genetics, Wolman Disease, Humans, Infant, Child, Lipids, Genetics (clinical), Lymphohistiocytosis, Hemophagocytic, Hepatomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2649c328ec4d1786b0d48787b10fea00
https://pubmed.ncbi.nlm.nih.gov/35972026

المؤلفون: Surekha Pendyal, Areeg Hassan El-Gharbawy

المصدر: Pediatric Nutrition for Dietitians ISBN: 9781003147855

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2fcd49827a834e9087bd15bba4fd9b63
https://doi.org/10.1201/9781003147855-23

المؤلفون: Rebecca L. Koch, Claudia Soler-Alfonso, Bridget T. Kiely, Akihiro Asai, Ariana L. Smith, Deeksha S. Bali, Peter B. Kang, Andrew P. Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer L. Orthmann-Murphy, Deberah S. Goldman, Surekha Pendyal, Areeg H. El-Gharbawy, Stephanie L. Austin, Laura E. Case, Raphael Schiffmann, Michio Hirano, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism. 138:107525

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b336b0c258570ccc932e272583c3b197
https://doi.org/10.1016/j.ymgme.2023.107525

المؤلفون: Areeg El-Gharbawy, Joseph Cao, Surekha Pendyal, Cindy Li, Lauren Workman, Alisha Mavis, Ashlee Stiles, Sarah Young

المصدر: Molecular Genetics and Metabolism. 138:107409

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af41156d0c9a2d8b282fdd80fe280dca
https://doi.org/10.1016/j.ymgme.2023.107409

المؤلفون: A. Bordugo, Irene J Hoogeveen, Surekha Pendyal, Foekje de Boer, Chiara Montanari, Serena Gasperini, Giancarlo Parenti, Vanessa B Bastek, Carmen Campana, U. Meyer, A. Rossi, Daniela Melis, Pietro Strisciuglio, Arianna Maiorana, Miriam Rigoldi, S. Paci, Terry G J Derks, Priya S. Kishnani, A. Dianin, Rossella Parini

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Rossi, A., Hoogeveen, I. J., Bastek, V. B., de Boer, F., Montanari, C., Meyer, U., Maiorana, A., Bordugo, A., Dianin, A., Campana, C., Rigoldi, M., Kishnani, P. S., Pendyal, S., Strisciuglio, P., Gasperini, S., Parenti, G., Parini, R., Paci, S., Melis, D., Derks, T. G. J.

المصدر: Journal of Inherited Metabolic Disease, 43(4), 770-777. SPRINGER
Journal of Inherited Metabolic Disease

مصطلحات موضوعية: medicine.medical_specialty, high fat, Dietary lipid, Cardiomyopathy, glycogen storage diseases, Glycogen storage disease type III, Triglyceride, Glycogen Storage Disease Type III, 03 medical and health sciences, glycogen storage disease, dietary intervention, medium‐chain triglycerides, Internal medicine, Genetics, Humans, Medicine, Child, Myopathy, Triglycerides, Genetics (clinical), Cardiomyopathie, Monitoring, Physiologic, 030304 developmental biology, 0303 health sciences, medium-chain triglycerides, metabolic control, biology, business.industry, 030305 genetics & heredity, Original Articles, medicine.disease, Dietary Fats, Liver, Hepatocellular carcinoma, Cohort, biology.protein, Original Article, Creatine kinase, medicine.symptom, Literature study, Cardiomyopathies, business, medium-chain triglyceride, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca899d23e9d7d79f046f34c6ab01b0ca
https://hdl.handle.net/11370/b25022a6-ef4f-49a7-9091-b9ac6ed7c808

المؤلفون: Anna K. Paschall, Kristen L. Deak, Ghada Hijazi, Areeg El-Gharbawy, Brian Smith, Surekha Pendyal, Stephanie Austin, Priya S. Kishnani, Sarah P. Young, Tracy Boggs, Andrew J. Muir, Laura E. Case, Sathya Amarasekara

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100821-(2021)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Medicine (General), LDL, Low density lipoproteins, Cirrhosis, HDL, High density lipoprotein, MRI, Magnetic resonance imaging, Endocrinology, Diabetes and Metabolism, Cardiomyopathy, Glycogen storage disease type III, Biochemistry, Glycogen storage disease type III (GSD III), Liver disease, Endocrinology, and myopathy, Biology (General), GDE, Glycogen debrancher enzyme, LT, liver transplantation, Ejection fraction, TGs, Triglycerides, CPK, Creatine phosphokinase, US, Ultrasound, Biomarker (medicine), GGT, Gamma glutamyl transferase, medicine.symptom, AST, Aspartate aminotransferase, Research Paper, GSD, Glycogen storage disease, medicine.medical_specialty, QH301-705.5, BMI, Body mass index, CEA, Carcinoembryonic antigen, Asymptomatic, AFP, Alpha-fetoprotein, R5-920, Internal medicine, CT scan, Computerized tomography scan, Genetics, medicine, Molecular Biology, BG, Blood glucose, business.industry, Glc4, Glucose tetrasaccharide, ALT, Alanine aminotransferase, Muscle weakness, DM, Diabetes mellitus, Left ventricular hypertrophy (LVH), medicine.disease, Hypoglycemia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d29ad825a5f907e52901bf8fcd98ecc5
https://doi.org/10.1016/j.ymgmr.2021.100821