ArticleNeurology2022
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Open access · bronzeAbstract readConsensus Statement
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Article in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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65citing papers in PubMed
10.6field-weighted citation impact, top 1% of its field
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Who cites it
65 citing papers in PubMed, 129 citations in OpenAlex.
- Don't miss this treatable neurogenetic disease!Pediatric radiology · 2026Review
- Longitudinal Clinical Progression in X-Linked Adrenoleukodystrophy: The AMNL Scoring System.Annals of the Child Neurology Society · 2026Article
- Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden.JIMD reports · 2026Article
- Article
- Outcomes of an optimized ciclosporin-free haploidentical HSCT protocol in paediatric patients with cerebral adrenoleukodystrophy.British journal of haematology · 2026Article
- The complex lipidome as a driver of tissue-specific pathology in adrenoleukodystrophy.Molecular neurodegeneration · 2026Review
- Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort.Journal of clinical laboratory analysis · 2026Article
- A novel ABCD1 frameshift mutation detected in a Chinese male with adrenomyeloneuropathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Clinical telemonitoring and telerehabilitation of cognition in rare neurological diseases: a scoping review.Journal of neurology · 2026Article
- Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children.Annals of the Child Neurology Society · 2026Article
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Gene Therapy-Related Malignancy and the Risk of Cancer Exceptionalism.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026Article
- Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research.Neurology · 2026Article
- Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy.Brain : a journal of neurology · 2026Observational
- The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.Journal of neurology · 2026Article
- Living with adrenoleukodystrophy: adult patient and caregiver perspectives.Orphanet journal of rare diseases · 2026Article
- Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.Brain communications · 2026Article
- Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.Neurology · 2025Review
5 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors at 1 institution in 1 country.
Marc EngelenFrom 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.ORCID 0000-0002-5346-8497
Wouter J C van BallegoijFrom 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.ORCID 0000-0002-3885-2415
Eric James MallackFrom 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.ORCID 0000-0002-2678-8807
Keith P Van HarenFrom 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.ORCID 0000-0002-0233-9361
Wolfgang KöhlerFrom 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.
Ettore SalsanoFrom 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.ORCID 0000-0001-9167-1878
A S P van TrotsenburgFrom 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.
Fanny MochelFrom 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.
Caroline SevinFrom 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.
Molly O RegelmannFrom 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.
Nicholas A TritosFrom 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.
Alyssa HalperFrom 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.
Robin H LachmannFrom 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.ORCID 0000-0002-2618-2581
James DavisonFrom 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.
Gerald V RaymondFrom 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.
Troy C LundFrom 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.ORCID 0000-0001-9174-8919
Paul J OrchardFrom 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.
Joern-Sven KuehlFrom 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.
Caroline A LindemansFrom 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.
Paul CarusoFrom 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.
Bela Rui TurkFrom 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.
Ann B MoserFrom 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.
Frédéric M VazFrom 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.ORCID 0000-0002-9048-1041
Sacha FerdinandusseFrom 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.
Stephan KempFrom 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.ORCID 0000-0003-2023-064X
Ali FatemiFrom 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.
Florian S EichlerFrom 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.
Irene C HuffnagelFrom 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.
Lucile Packard Children's Hospital · US
Funding
Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI S. Ali Fatemi · 2019 to 2026
$14.3MLeveraging Myelin-Sensitive Imaging to Predict Early Lesion Pathogenesis in Cerebral AdrenoleukodystrophyK23NS118044 · NINDS · WEILL MEDICAL COLL OF CORNELL UNIV · PI MALLACK, ERIC · 2021 to 2025
$970kNINDS NIH HHS K23 NS118044NINDS NIH HHS U54 NS115052
Abstract
Pathogenic variants in the
Indexed as
Adrenal InsufficiencyAdrenoleukodystrophyHematopoietic Stem Cell TransplantationHumansInfant, NewbornMaleNeonatal Screening
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