المؤلفون: Dahiya, AK, Pass, AR, Shirazian, T

المصدر: In The Journal of Minimally Invasive Gynecology November 2023 30(11) Supplement:S129-S129

المؤلفون: Perelman AD; Department of Obstetrics & Gynecology, New York University (NYU) Langone Health, 5 East 98 St., Room 256, New York, NY 10029; Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, Mount Sinai Hospital, New York, NY. Electronic address: Allisondperelman@gmail.com., Braithwaite RS; Department of Medicine and Population Health, NYU Langone Health, New York, NY., Caughey AB; Division of Perinatology, Department of Obstetrics & Gynecology, Oregon Health and Science University, Portland, OR., Marty LN; Department of Obstetrics & Gynecology, NYU Langone Health, New York, NY., Hirschberg CI; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, North Shore University Hospital & Long Island Jewish Medical Center, New Hyde Park, NY., Pass AR; Department of Obstetrics & Gynecology, NYU Langone Health, New York, NY., Penfield CA; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, NYU Langone Health, New York, NY.

المصدر: American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2024 Jul 09. Date of Electronic Publication: 2024 Jul 09.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0370476 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6868 (Electronic) Linking ISSN: 00029378 NLM ISO Abbreviation: Am J Obstet Gynecol Subsets: MEDLINE

المؤلفون: Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute., Sysol JR; Metabolic Medicine Branch, National Human Genome Research Institute., Head PE; Metabolic Medicine Branch, National Human Genome Research Institute., Epping MW; Metabolic Medicine Branch, National Human Genome Research Institute., Gavrilova O; Mouse Metabolism Core, National Institute of Diabetes and Digestive and Kidney Diseases., Crocker MK; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Sloan JL; Metabolic Medicine Branch, National Human Genome Research Institute., Koutsoukos SA; Metabolic Medicine Branch, National Human Genome Research Institute., Wang C; Metabolic Medicine Branch, National Human Genome Research Institute., Ktena YP; Metabolic Medicine Branch, National Human Genome Research Institute., Mendelson S; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Pass AR; Metabolic Medicine Branch, National Human Genome Research Institute., Zerfas PM; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, Maryland, USA., Hoffmann V; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, Maryland, USA., Vernon HJ; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Fletcher LA; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Reynolds JC; Radiology and Imaging Sciences Department, Clinical Center., Tsokos MG; Ultrastructural Pathology Section, Center for Cancer Research; and., Stratakis CA; Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Voss SD; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Chen KY; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Brown RJ; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Chen XS; Laboratory of Molecular Imaging and Nanomedicine, National Institute of Biomedical Imaging and Bioengineering, NIH, Bethesda, Maryland, USA., Yanovski JA; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Venditti CP; Metabolic Medicine Branch, National Human Genome Research Institute.

المصدر: JCI insight [JCI Insight] 2024 Feb 22; Vol. 9 (4). Date of Electronic Publication: 2024 Feb 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/metabolism , Fibroblast Growth Factors* , Lipodystrophy*, Animals ; Humans ; Mice ; Mice, Transgenic

SCR Disease Name: Methylmalonic acidemia

المؤلفون: Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., Gebremariam A; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., McCoy S; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., Pass AR; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., Gagné J; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., Hall C; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., Ferry S; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., Van Ryzin C; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., Sloan JL; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA., Sacchetti E; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Catesini G; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Rizzo C; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Martinelli D; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Spada M; Division of Hepato-Bilio-Pancreatic Surgery, Liver and Kidney Tranplantation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; European Research Network TransplantChild, Rome, Italy., Dionisi-Vici C; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Venditti CP; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jul; Vol. 46 (4), pp. 554-572. Date of Electronic Publication: 2023 Jun 06.

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

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/therapy , Amino Acid Metabolism, Inborn Errors*/complications, Humans ; Mutation ; Biomarkers ; Disease Progression ; Methylmalonic Acid ; Methylmalonyl-CoA Mutase/genetics ; Methylmalonyl-CoA Mutase/metabolism

SCR Disease Name: Methylmalonic acidemia; Methylmalonic aciduria cblB type

المؤلفون: Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pass AR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Harrington EA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sloan JL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gagné J; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., McCoy S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bell SL; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Hattenbach JD; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Leitner BP; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Duckworth CJ; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Fletcher LA; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Cassimatis TM; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Galarreta CI; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Thurm A; Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Snow J; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Van Ryzin C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ferry S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Mew NA; Children's National Health System, Washington, DC, USA., Shchelochkov OA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Chen KY; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Venditti CP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. venditti@mail.nih.gov.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2233.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pass AR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Harrington EA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sloan JL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gagné J; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., McCoy S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bell SL; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Hattenbach JD; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Leitner BP; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Duckworth CJ; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Fletcher LA; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Cassimatis TM; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Galarreta CI; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Thurm A; Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Snow J; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Van Ryzin C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ferry S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Mew NA; Children's National Health System, Washington, DC, USA., Shchelochkov OA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Chen KY; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Venditti CP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. venditti@mail.nih.gov.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1522-1533. Date of Electronic Publication: 2021 Apr 05.

نوع المنشور: Clinical Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/therapy , Propionates*, Biomarkers ; Breath Tests ; Humans ; Liver ; Methylmalonic Acid

SCR Disease Name: Methylmalonic acidemia