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Authors :
van Kuilenburg ABP; From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada
Subjects: Microsatellite Repeats* ; Mutation*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics
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Source:
The New England journal of medicine [N Engl J Med] 2019 Apr 11; Vol. 380 (15), pp. 1433-1441.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited
Record details
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Authors :
Enns GM; Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA. ; Berry SA
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*drug therapy ; Hyperammonemia/Hyperammonemia/Hyperammonemia/*drug therapy ; Phenylacetates/Phenylacetates/Phenylacetates/*therapeutic use
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Source:
The New England journal of medicine [N Engl J Med] 2007 May 31; Vol. 356 (22), pp. 2282-92.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited
Record details
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Authors :
Häberle J; Universitätsklinikum Münster, Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin, Münster, Germany.; Görg B
Subjects: Point Mutation*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/*genetics
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Source:
The New England journal of medicine [N Engl J Med] 2005 Nov 03; Vol. 353 (18), pp. 1926-33.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited
Record details
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Ammonia/Ammonia/Ammonia/*blood ; Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/*metabolism
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Source:
The New England journal of medicine [N Engl J Med] 2006 Mar 09; Vol. 354 (10), pp. 1093-4; author reply 1093-4.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited
Record details
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*cerebrospinal fluid ; Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/*cerebrospinal fluid ; Glutamine/Glutamine/Glutamine/*cerebrospinal fluid
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Source:
The New England journal of medicine [N Engl J Med] 2006 Mar 09; Vol. 354 (10), pp. 1093-4; author reply 1093-4.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited
Record details
