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Showing articles 0 to 14 of 14 Filter Applied: enzyme,defect (Click to remove) Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem Neurol 23:1030, Sipe,J.C., 1973 Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 NEJM 370:911-920, Zhou, Q.,et al, 2014 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 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 Cytochrome c Oxidase Deficiency in Leigh Syndrome Ann Neurol 22:498-506, DiMauro,S.,et al, 1987 Neurological Manifestations of Fabry Disease in Female Carriers Ann Neurol 4:537-540, Bird,T.D.,et al, 1978 A 54-Year-Old Woman with Progressive Headache and Neurologic Decline Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024 Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006 Brain Imaging in Late-Onset CM2 Gangliosidosis Neurol 43:2055-2058, Streifler,J.Y.,et al, 1993 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 Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984 Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome NEJM 296:210, VanWoert,M.H.,et al, 1977 Showing articles 0 to 14 of 14