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Showing articles 0 to 9 of 9 Filter Applied: enzyme,defect (Click to remove) Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014 Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease Neurol 78: e126, Shah, S.,et al, 2012 Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy NEJM 338:1119-1126, Krivit,W.,et al, 1998 Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities Ann Neurol 39:343-351, Rahman,S.,et al, 1996 Canavan Disease:From Spongy Degeneration to Molecular Analysis J Pediatr 127:511-517, Matalon,R.,et al, 1995 Cytochrome c Oxidase Deficiency in Leigh Syndrome Ann Neurol 22:498-506, DiMauro,S.,et al, 1987 Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis Ann Neurol 18:614-617, Wolf,B.,et al, 1985 Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem Neurol 23:1030, Sipe,J.C., 1973 Showing articles 0 to 9 of 9