Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Bok LA"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C
Publikováno v:
Annals of Neurology; Oct2007, Vol. 62 Issue 4, p414-418, 5p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Archives of Disease in Childhood; Aug2007, Vol. 92 Issue 8, p687-689, 3p
Publikováno v:
European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS145-S145, 1p
Autor:
Coughlin CR; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. curtis.coughlin@cuanschutz.edu., Tseng LA; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Bok LA; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Hartmann H; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Footitt E; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Striano P; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Tabarki BM; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Lunsing RJ; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Stockler-Ipsiroglu S; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Gordon S; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Van Hove JLK; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Abdenur JE; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Boyer M; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Longo N; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Andrews A; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Janssen MCH; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., van Wegberg A; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Prasad C; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Prasad AN; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Lamb MM; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Wijburg FA; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., Gospe SM Jr; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands., van Karnebeek C; From the Section of Clinical Genetics and Metabolism (C.R.C., J.L.K.V.H.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; Department of Pediatrics (L.A.T., F.A.W., C.v.K.), Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam; United for Metabolic Diseases (L.A.T., C.v.K.); Department of Pediatrics and Neonatology (L.A.B.), Máxima Medical Center, Veldhoven, the Netherlands; Clinic for Pediatric Kidney (H.H.), Liver, and Metabolic Diseases, Hannover Medical School, Germany; Department of Metabolic Paediatrics (E.F.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (P.S.), IRCCS 'G. Gaslini' Institute, Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genova, Italy; Prince Sultan Military Medical City (B.M.T.), Riyadh, Saudi Arabia; Department of Paediatric Neurology (R.J.L.), University Medical Center Groningen, University of Groningen, the Netherlands; Division of Biochemical Genetics (S.S.-I.), BC Children's Hospital, University of British Columbia; BC Children's Hospital Research Institute (S.G.), Vancouver, British Columbia, Canada; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's Hospital, Orange, CA; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands; Department of Pediatrics (C.P., A.N.P.), Western University, London, Ontario, Canada; Department of Epidemiology and Center for Global Health (M.M.L.), Colorado School of Public Health, Aurora; Departments of Neurology and Pediatrics (S.M.G.), University of Washington, Seattle; Seattle Children's Research Institute (S.M.G.), WA; Department of Pediatrics (S.M.G.), Duke University, Durham, NC; and Department of Human Genetics (C.v.K.), Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.
Publikováno v:
Neurology [Neurology] 2022 Dec 05; Vol. 99 (23), pp. e2627-e2636. Date of Electronic Publication: 2022 Dec 05.
Autor:
Peters VJT; Department of Management, Tilburg School of Economics and Management, Tilburg University, Tilburg, The Netherlands.; Department of Internal Medicine, Catharina Ziekenhuis, Eindhoven, The Netherlands., Bok LA; Department of Paediatrics, Máxima Medisch Centrum, Veldhoven, The Netherlands., de Beer L; Department of Management, Tilburg School of Economics and Management, Tilburg University, Tilburg, The Netherlands., van Rooij JJM; Department of Management, Tilburg School of Economics and Management, Tilburg University, Tilburg, The Netherlands., Meijboom BR; Department of Management, Tilburg School of Economics and Management, Tilburg University, Tilburg, The Netherlands.; Department of Tranzo, Tilburg School of Social and Behavioral Sciences, Tilburg University, Tilburg, Noord-Brabant, The Netherlands.; Department of Marketing, Innovation and Organization, Ghent University, Ghent, Belgium., Bunt JEH; Department of Paediatrics, Elisabeth-TweeSteden Ziekenhuis, Tilburg, The Netherlands.
Publikováno v:
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2022 Sep; Vol. 35 (5), pp. 1208-1216. Date of Electronic Publication: 2022 Jun 05.
Autor:
Tseng LA; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands., Wright JN; Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Gospe SM; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Duke University, Durham, NC, USA., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Coene KLM; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Clinical chemistry [Clin Chem] 2022 May 18; Vol. 68 (5), pp. 732-735.