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Showing articles 0 to 10 of 10 Filter Applied: enzyme,defect (Click to remove) Screening for Inherited Metabolic Diseases in Adults with Neurological Disease Lancet 1:1101, Wierzbicki,A.S.,et al, 1988 Spinocerebellar Degeneration:Hexosaminidase A & B Deficiency in Two Adult Sisters Neurol 29:380-384, Oonk,J.G.W.,et al, 1979 Chronic Hexosaminidase A & B Deficiency et al. , Ann Neurol 2:156977., Goldie,W.D., 1977 Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis) NEJM 370:1830-1841, Case 14-2014, 2014 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 Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency Neurol 44:461-466, Wilkinson,D.A.,et al, 1994 Adult Phosphorylase b Kinase Deficiency Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990 Amaurotic Family Idiocy Am J Dis Child 142:53-56, Abt,I.A., 1988 Phosphorylase Deficiency In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986 Prenatal Genetic Diagnosis in 3000 Amniocenteses NEJM 300:157-163, Golbus,M.S.,et al, 1979 Showing articles 0 to 10 of 10