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Showing articles 0 to 11 of 11 Filter Applied: enzyme,defect (Click to remove) Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 NEJM 370:911-920, Zhou, Q.,et al, 2014 Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis) NEJM 370:1830-1841, Case 14-2014, 2014 Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia Adams & Victors Principles of Neurology, Chp 37, pg 952, Ropper, A.H.,et al, 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 Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency Neurol 60:1413-1417, Pearl,P.L.,et al, 2003 Amaurotic Family Idiocy Am J Dis Child 142:53-56, Abt,I.A., 1988 Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis Ann Neurol 18:614-617, Wolf,B.,et al, 1985 Neurologic Outcome in Children with Inborn Errors of Urea Synthesis NEJM 310:1500-1505, Msall,M.,et al, 1984 Prenatal Genetic Diagnosis in 3000 Amniocenteses NEJM 300:157-163, Golbus,M.S.,et al, 1979 Chronic Hexosaminidase A & B Deficiency et al. , Ann Neurol 2:156977., Goldie,W.D., 1977 Showing articles 0 to 11 of 11