Zobrazeno 1 - 10
of 634
pro vyhledávání: '"Bok LA"'
Autor:
Prieur, Annick
Publikováno v:
Sosiologisk tidsskrift; 2003, Vol. 11 Issue 3, p300-322, 23p
Autor:
Coughlin CR 2nd; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Tseng LA; Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Abdenur JE; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, California, USA., Ashmore C; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Boemer F; Department of Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, Liège, Belgium., Bok LA; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, The Netherlands., Boyer M; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, California, USA., Buhas D; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, Québec, Canada., Clayton PT; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Das A; Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Dekker H; VKS: Dutch Patient Organization for Metabolic Diseases, Zwolle, The Netherlands., Evangeliou A; Division of Child Neurology and Inherited Metabolic Disorders, 4th Department of Pediatrics, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece., Feillet F; Reference Center for Inborn Errors of Metabolism, Pediatric Unit, University Hospital of Nancy, Nancy, France.; INSERM UMR S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France., Footitt EJ; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK., Gospe SM Jr; Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Duke University, Durham, North Carolina, USA., Hartmann H; Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Kara M; Department of Pediatrics, University of Tripoli, Tripoli, Libya., Kristensen E; National Management of Newborn Screening and Advanced Laboratory Diagnostics in Inborn Errors of Metabolism, Department of Children and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia., Lilje R; Department of Children and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Lunsing RJ; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Mills P; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Papadopoulou MT; Division of Child Neurology and Inherited Metabolic Disorders, 4th Department of Pediatrics, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece., Pearl PL; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Piazzon F; Neurometabolic Clinic, Children's Institute, University of Sao Paulo, Brazil., Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria., Saini AG; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Santra S; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Sjarif DR; Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia., Stockler-Ipsiroglu S; Division of Biochemical Genetics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Verhoeven-Duif NM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Wijburg FA; Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children & School of Medicine, University of Glasgow, Glasgow, UK., van Karnebeek CDM; Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jan; Vol. 44 (1), pp. 178-192. Date of Electronic Publication: 2020 Dec 01.
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.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Autor:
Tseng LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; On behalf of United for Metabolic Diseases, the Netherlands., Abdenur JE; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA., Andrews A; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Aziz VG; Seattle Children's Research Institute, Seattle, WA, USA., Bok LA; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, the Netherlands., Boyer M; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA., Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada., Hartmann H; Clinic for Pediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Footitt EJ; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK., Grønborg S; Centre Inherited Metabolic Disease, Department of Paediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Janssen MCH; Department of Internal Medicine, Radboud Centre for Mitochondrial and Metabolic Medicine, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Lunsing RJ; Department of Paediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., MacKenzie AE; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Wijburg FA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Gospe SM Jr; Seattle Children's Research Institute, Seattle, WA, USA; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA; Department of Pediatrics, Duke University, Durham, NC, USA., Coughlin CR 2nd; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address: curtis.coughlin@cuanschutz.edu., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; On behalf of United for Metabolic Diseases, the Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: c.d.vankarnebeek@amsterdamumc.nl.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2022 Apr; Vol. 135 (4), pp. 350-356. Date of Electronic Publication: 2022 Feb 17.
Autor:
Tseng LA; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, the Netherlands., Teela L; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam Reproduction and Development, Amsterdam Public Health, Amsterdam, the Netherlands., Janssen MC; Department of Internal Medicine, Radboud Centre for Mitochondrial and Metabolic Medicine, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands., Willemsen MAAP; On behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Neuteboom RF; Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands., Haverman L; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam Reproduction and Development, Amsterdam Public Health, Amsterdam, the Netherlands., Gospe SM Jr; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Duke University, Durham, NC, USA., Coughlin CR; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Mar 04; Vol. 31, pp. 100853. Date of Electronic Publication: 2022 Mar 04 (Print Publication: 2022).
Autor:
Vanoevelen JM; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands. j.vanoevelen@maastrichtuniversity.nl.; GROW-School for Oncology and Developmental Biology, 6229 ER, Maastricht, The Netherlands. j.vanoevelen@maastrichtuniversity.nl., Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands., Grashorn JC; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands., Lambrichs E; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud UMC, 6525 GA, Nijmegen, The Netherlands., Bok LA; Department of Pediatrics, Màxima Medical Center, 5504 DB, Veldhoven, The Netherlands., Wevers RA; Translational Metabolic Laboratory, Radboud UMC, 6525 GA, Nijmegen, The Netherlands., van der Knaap MS; Department of Child Neurology, VUMC, 1105 AZ, Amsterdam, The Netherlands., Bugiani M; Department of Neuropathology, VUMC, 1105 AZ, Amsterdam, The Netherlands., Frisk JH; Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, 75007, Uppsala, Sweden., Colnaghi R; Genome Damage and Stability Centre, University of Sussex, Brighton, BN1 9RH, UK., O'Driscoll M; Genome Damage and Stability Centre, University of Sussex, Brighton, BN1 9RH, UK., Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands., Rodenburg R; Translational Metabolic Laboratory, Radboud UMC, 6525 GA, Nijmegen, The Netherlands., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands.; Department of Human Genetics, Radboud UMC, 6525 GA, Nijmegen, The Netherlands.; GROW-School for Oncology and Developmental Biology, 6229 ER, Maastricht, The Netherlands.; MHENS School of Neuroscience, 6229 ER, Maastricht, The Netherlands.; Donders Institute of Neuroscience, Radboud UMC, 6525 GA, Nijmegen, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands., Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt., Wang L; Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, 75007, Uppsala, Sweden., Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 ER, Maastricht, The Netherlands. c.stumpel@mumc.nl.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2022 Feb; Vol. 143 (2), pp. 245-262. Date of Electronic Publication: 2021 Dec 17.
Autor:
von Scheibler ENMM; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands., van der Valk Bouman ES; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Nuijts MA; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands., Bauer NJC; University Eye Clinic Maastricht, Maastricht University Medical Center, Maastricht, The Netherlands., Berendschot TTJM; University Eye Clinic Maastricht, Maastricht University Medical Center, Maastricht, The Netherlands., Vermeltfoort P; Department of Ophthalmology, Máxima Medical Center, Veldhoven, The Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands., van Eeghen AM; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; ENCORE, Erasmus Medical Center, Rotterdam, The Netherlands.; Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands., Houben ML; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., van Amelsvoort TAMJ; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands., Boot E; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.; The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada., van Egmond-Ebbeling MB; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Feb; Vol. 188 (2), pp. 569-578. Date of Electronic Publication: 2021 Nov 12.
Autor:
Mulder FECM, Bok LA; Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands., van Douveren FQMP; Department of Orthopaedic Surgery, Máxima Medical Centre, Veldhoven, The Netherlands., Pruijs HEH; Department of Orthopaedic Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands., Zeegers AVCM; Department of Orthopaedic Surgery, Medisch Spectrum Twente (MST), Enschede, The Netherlands.
Publikováno v:
Journal of children's orthopaedics [J Child Orthop] 2021 Oct 01; Vol. 15 (5), pp. 488-495.