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Showing articles 0 to 10 of 10 Filter Applied: enzyme,defect (Click to remove) Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease Neurol 78: e126, Shah, S.,et al, 2012 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study Lancet 369:37-42,5, Wilcken,B.,et al, 2007 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 Genetic Diagnosis of Gaucher's Disease Lancet 339:889-892, Mistry,P.K.,et al, 1992 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Phosphorylase Deficiency In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986 Acid Maltase Deficiency Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986 Adult-onset GM2 Gangliosidosis Neurol 28:1117-1123, O'Neill,B.,et al, 1978 Showing articles 0 to 10 of 10