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Showing articles 0 to 12 of 12 Filter Applied: enzyme,defect (Click to remove) Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy NEJM 338:1119-1126, Krivit,W.,et al, 1998 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia Neurol 29:510-513, Rutgers,M.J.,et al, 1979 Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem Neurol 23:1030, Sipe,J.C., 1973 A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 NEJM 370:911-920, Zhou, Q.,et al, 2014 Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia Adams & Victors Principles of Neurology, Chp 37, pg 952, Ropper, A.H.,et al, 2014 Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease) Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 Recurrent Acroparaesthesia During Febrile Infections Lancet 363:1698, Bodamer,O.A.,et al, 2004 Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997 Showing articles 0 to 12 of 12