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Showing articles 0 to 11 of 11 Filter Applied: enzyme,defect (Click to remove) Glycogen-Storage Disease Type II eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006 Recurrent Acroparaesthesia During Febrile Infections Lancet 363:1698, Bodamer,O.A.,et al, 2004 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 Neurologic Crises in Hereditary Tyrosinemia NEJM 322:432-437, Mitchell,G.,et al, 1990 Cytochrome c Oxidase Deficiency in Leigh Syndrome Ann Neurol 22:498-506, DiMauro,S.,et al, 1987 Acid Maltase Deficiency Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986 Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification NEJM 313:139-181, Sly,W.S.,et al, 1985 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 Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia Arch Neurol 41:1293-1296, Dave,P.,et al, 1984 Fatal Infantile Form of Muscle Phosphorylase Deficiency Neurol 28:1124-1129, DiMauro,S.,et al, 1978 Showing articles 0 to 11 of 11