2022年12月06日
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赖氨酸之间的联系减少Pyridoxine-Dependent癫痫患者的治疗和认知结果
柯蒂斯Coughlin r .,劳拉·a·曾,Levinus a·博克,汉斯·哈特曼,艾玛Footitt,视图ORCID概要Pasquale Striano,卜拉欣m . Tabarki,Roelineke j . lun,西尔维娅Stockler-Ipsiroglu,Shanlea戈登,约翰L.K.范霍夫,何塞·e·Abdenur,莫妮卡波伊尔,尼古拉隆戈,阿什利·安德鲁斯,Mirian h詹森,视图ORCID概要Annemiek van Wegberg,Chitra普拉萨德,视图ORCID概要Asuri n·普拉萨德,视图ORCID概要莫莉·m·兰姆,熔块a Wijburg,西德尼·m·Gospe,克拉拉·Karnebeek,代表国际PDE财团
第一次出版2022年8月25日,
DOI: https://doi.org/10.1212/WNL.0000000000201222
柯蒂斯Coughlin r .
从临床遗传学和新陈代谢的部分(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.
劳拉·a·曾
从临床遗传学和新陈代谢的部分(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.
Levinus a·博克
从临床遗传学和新陈代谢的部分(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.
汉斯·哈特曼
从临床遗传学和新陈代谢的部分(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.
艾玛Footitt
从临床遗传学和新陈代谢的部分(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.
Pasquale Striano
从临床遗传学和新陈代谢的部分(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.
卜拉欣m . Tabarki
从临床遗传学和新陈代谢的部分(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.
Roelineke j . lun
从临床遗传学和新陈代谢的部分(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.
西尔维娅Stockler-Ipsiroglu
从临床遗传学和新陈代谢的部分(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.
Shanlea戈登
从临床遗传学和新陈代谢的部分(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.
约翰L.K.范霍夫
从临床遗传学和新陈代谢的部分(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.
何塞·e·Abdenur
从临床遗传学和新陈代谢的部分(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.
莫妮卡波伊尔
从临床遗传学和新陈代谢的部分(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.
尼古拉隆戈
从临床遗传学和新陈代谢的部分(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.
阿什利·安德鲁斯
从临床遗传学和新陈代谢的部分(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.
Mirian h詹森
从临床遗传学和新陈代谢的部分(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.
Annemiek van Wegberg
从临床遗传学和新陈代谢的部分(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.
Chitra普拉萨德
从临床遗传学和新陈代谢的部分(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.
Asuri n·普拉萨德
从临床遗传学和新陈代谢的部分(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.
莫莉·m·兰姆
从临床遗传学和新陈代谢的部分(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.
熔块a Wijburg
从临床遗传学和新陈代谢的部分(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.
西德尼·m·Gospe小
从临床遗传学和新陈代谢的部分(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.
克拉拉·Karnebeek
从临床遗传学和新陈代谢的部分(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.
从临床遗传学和新陈代谢的部分(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.
赖氨酸之间的联系减少Pyridoxine-Dependent癫痫患者的治疗和认知结果
柯蒂斯R。Coughlin,劳拉。曾,Levinus。博克,汉斯哈特曼,艾玛Footitt,帕斯夸里Striano,卜拉欣M。Tabarki,Roelineke J。lun,西尔维娅Stockler-Ipsiroglu,Shanlea戈登,约翰L.K.范霍夫,何塞·E。Abdenur,莫妮卡波伊尔,尼古拉隆戈,阿什利安德鲁斯,Mirian h詹森,Annemiek范Wegberg,Chitra普拉萨德,Asuri N。普拉萨德,莫莉M。羊肉,熔块。Wijburg,西德尼·M。Gospe,克拉拉范Karnebeek,代表国际PDE财团
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2022年12月,
99年
(23)
e2627-e2636;
DOI:10.1212 / WNL.0000000000201222
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