赖氨酸还原疗法与吡哆醇依赖性癫痫患者认知预后的相关性

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.

来自科罗拉多大学安舒茨医学院奥罗拉分校儿科临床遗传学和代谢科(c.r.c.， J.L.K.V.H.);艾玛儿童医院儿科(l.a.t.， f.a.w.， c.v.k.)和阿姆斯特丹消化系统内分泌代谢科，阿姆斯特丹大学医学中心，阿姆斯特丹大学;代谢疾病联合会(l.a.t.， c.v.k.);荷兰维尔德霍芬医疗中心Máxima儿科和新生儿科(L.A.B.);德国汉诺威医学院儿童肾脏、肝脏和代谢疾病诊所;联合王国伦敦大奥蒙德街医院代谢儿科;儿童神经病学和肌肉疾首页病科(P.S.)， IRCCS“G。加斯里尼“研究所，热那亚;意大利热那亚大学神经科学、康复、眼科、遗传学、妇幼保健系;沙特阿拉伯利雅得苏丹王子军医城(B.M.T.); 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.