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Showing articles 0 to 15 of 15 Filter Applied: enzyme,defect (Click to remove) Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 NEJM 370:911-920, Zhou, Q.,et al, 2014 Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006 Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy NEJM 338:1119-1126, Krivit,W.,et al, 1998 Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem Neurol 23:1030, Sipe,J.C., 1973 A 54-Year-Old Woman with Progressive Headache and Neurologic Decline Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024 Neurological Presentation of Fabry's Disease in a 52 Year Old Man JNNP 73:340-342, Mohanraj,R.,et al, 2002 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 Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities Ann Neurol 39:343-351, Rahman,S.,et al, 1996 Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report) JNNP 53:76-78, Fiorelli,M.,et al, 1990 Acute Profound Dystonia in Infants with Glutaric Acidemia Pediatrics 83:228-234, Bergman,I.,et al, 1989 Cytochrome c Oxidase Deficiency in Leigh Syndrome Ann Neurol 22:498-506, DiMauro,S.,et al, 1987 Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification NEJM 313:139-181, Sly,W.S.,et al, 1985 Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia Neurol 29:510-513, Rutgers,M.J.,et al, 1979 Showing articles 0 to 15 of 15