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Showing articles 0 to 9 of 9 Filter Applied: enzyme,defect (Click to remove) Glycogen-Storage Disease Type II eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006 Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy NEJM 338:1119-1126, Krivit,W.,et al, 1998 Canavan Disease:From Spongy Degeneration to Molecular Analysis J Pediatr 127:511-517, Matalon,R.,et al, 1995 Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency Ann Int Med 120:216-217, Wong,L-J.C.,et al, 1994 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 Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus NEJM 322:1652-1669, Arn,P.H.,et al, 1990 Acid Maltase Deficiency Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986 Prenatal Genetic Diagnosis in 3000 Amniocenteses NEJM 300:157-163, Golbus,M.S.,et al, 1979 Showing articles 0 to 9 of 9