International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.

Autor: Engelen M; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam. m.engelen@amsterdamumc.nl., van Ballegoij WJC; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Mallack EJ; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Van Haren KP; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Köhler W; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Salsano E; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., van Trotsenburg ASP; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Mochel F; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Sevin C; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Regelmann MO; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Tritos NA; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Halper A; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Lachmann RH; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Davison J; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Raymond GV; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Lund TC; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Orchard PJ; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Kuehl JS; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Lindemans CA; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Caruso P; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Turk BR; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Moser AB; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Vaz FM; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Ferdinandusse S; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Kemp S; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Fatemi A; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Eichler FS; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam., Huffnagel IC; From the Department of Pediatric Neurology/Emma Children's Hospital (M.E., W.J.C.B., I.C.H.), Amsterdam UMC, Amsterdam Leukodystrophy Center, University of Amsterdam, the Netherlands; Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine/NewYork-Presbyterian Hospital, NY; Department of Neurology & Pediatrics/Lucile Packard Children's Hospital (K.P.V.H.), Stanford University School of Medicine, Palo Alto, CA 4. Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Germany; Unit of Rare Neurodegenerative and Neurometabolic Diseases (E.S.), Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy; Department of Pediatric Endocrinology/Emma Children's Hospital (A.S.P.T.), Amsterdam UMC, University of Amsterdam, the Netherlands; AP-HP (F.M.), Department of Medical Genetics, Reference Center for Adult Neurometabolic Diseases and Leukodystrophies, and INSERM U 1127, CNRS UMR 7225, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France; Department of Pediatric Neurology/Hôpital Bicêtre Paris Sud (C.S.), France, Reference Center for Children Leukodystrophies Inserm U1127, ICM-Hôpital Pitié Salpêtrière, Paris, France; Division of Pediatric Endocrinology and Diabetes (M.O.R.), Children's Hospital at Montefiore, Albert Einstein College of Medicine of Medicine, Bronx, NY; Neuroendocrine Unit (N.A.T.), Massachusetts General Hospital, Boston, MA; Harvard Medical School (N.A.T.), Boston, MA; Division of Pediatric Endocrinology (A.H.), Department of Pediatrics, Massachusetts General Hospital, Boston, MA, and Harvard Medical School (A.H.), Boston, MA; Charles Dent Metabolic Unit (R.H.L.), National Hospital for Neurology and Neurosurgery, London, United Kingdom; Metabolic Medicine (J.D.), Great Ormond Street Hospital for Children, London United Kingdom; Department of Genetic Medicine (G.V.R.), Johns Hopkins, Baltimore, MD; Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy (T.L., P.J.O.), University of Minnesota, Minneapolis; Pediatric Oncology (J.-S.K.), Hematology, Hemostaseology, University Hospital Leipzig, Germany; Pediatric Blood and Bone Marrow Transplantation (C.A.L.), Princess Maxima Center Utrecht, the Netherlands; Department of Pediatrics (C.A.L.), Wilhemina Children's Hospital, UMC Utrecht, Utrecht University, the Netherlands; Director of Pediatric Neuroimaging (P.C.), Lenox Hill Radiology and Medical Imaging Associates, New York, NY; Moser Center for Leukodystrophies (B.R.T., A.F.), Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD; Department of Neurogenetics (A.B.M.), Kennedy Krieger Institute, Baltimore, MD; Laboratory Genetic Metabolic Diseases (F.M.V., S.F., S.K.), Department of Clinical Chemistry and Pediatrics, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands; and Department of Neurology (F.S.E.), Massachusetts General Hospital, Boston, MA. Dr. van Ballegoij is currently at the Department of Neurology, Zaans Medisch Centrum, Zaandam.

Publikováno v: Neurology [Neurology] 2022 Nov 22; Vol. 99 (21), pp. 940-951. Date of Electronic Publication: 2022 Sep 29.

Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.

Autor: Koto, Yuta¹ (AUTHOR) kotoy@hirakata.kmu.ac.jp, Hadano, Nozomi² (AUTHOR), Sakai, Norio³ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 10/28/2024, Vol. 19 Issue 1, p1-13. 13p.

Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy.

Autor: van Ballegoij WJC; Department of Paediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Department of Neurology, OLVG Hospital, Amsterdam, The Netherlands., van de Stadt SIW; Department of Paediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Huffnagel IC; Department of Paediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Kemp S; Department of Paediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, Amsterdam Gastroenterology & Metabolism, University of Amsterdam, Amsterdam, The Netherlands., Willemse EAJ; Neurochemistry lab and Biobank, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centers, VU University, Amsterdam, The Netherlands., Teunissen CE; Neurochemistry lab and Biobank, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centers, VU University, Amsterdam, The Netherlands., Engelen M; Department of Paediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Nov; Vol. 7 (11), pp. 2127-2136. Date of Electronic Publication: 2020 Oct 13.

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy.

Autor: van Ballegoij WJC; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Department of Neurology, OLVG Hospital, Amsterdam, Netherlands., van de Stadt SIW; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Huffnagel IC; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands., Kemp S; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, Amsterdam Gastroenterology & Metabolism, University of Amsterdam, Amsterdam, Netherlands., van der Knaap MS; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.; Department of Functional Genomics, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Engelen M; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.

Publikováno v: Frontiers in physiology [Front Physiol] 2020 Jul 17; Vol. 11, pp. 786. Date of Electronic Publication: 2020 Jul 17 (Print Publication: 2020).

Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy.

Autor: van Ballegoij WJC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands. w.j.vanballegoij@amsterdamumc.nl.; Department of Neurology, OLVG Hospital, Amsterdam, The Netherlands. w.j.vanballegoij@amsterdamumc.nl., Kuijpers SC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands., Huffnagel IC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands., Weinstein HC; Department of Neurology, OLVG Hospital, Amsterdam, The Netherlands., Poll-The BT; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands., Engelen M; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands., Bennebroek CAM; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Verbraak FD; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Publikováno v: Journal of neurology [J Neurol] 2020 Mar; Vol. 267 (3), pp. 679-687. Date of Electronic Publication: 2019 Nov 12.