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Showing articles 0 to 13 of 13 Filter Applied: enzyme,defect (Click to remove) Glycogen-Storage Disease Type II eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006 Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992 Cytochrome c Oxidase Deficiency in Leigh Syndrome Ann Neurol 22:498-506, DiMauro,S.,et al, 1987 A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency NEJM 375:1879-1890, Case 34-2016, 2016 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 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 Coma in a Young Anorexic Woman Lancet 357:1944, Blans,M.J.,et al, 2001 Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature Medicine 74:131-135, Felice,K.J.,et al, 1995 Acute Profound Dystonia in Infants with Glutaric Acidemia Pediatrics 83:228-234, Bergman,I.,et al, 1989 Phosphorylase Deficiency In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986 Glycine Encephalopathy NEJM 298:687, Ch'ien,L.T., 1978 Showing articles 0 to 13 of 13