Article
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
Journal of inherited metabolic disease - 1 Dec 2008
Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S
Abstract excerpt
Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase. The most prevalent mutant genotype in type I Gaucher disease, N370S/N370S, is commonly thought to confer a mild phenotype presenting in adulthood. To characterize a subset of more severely affected N370S homozygotes, we assessed the phenotypes at or near the time of diagnosis of all N370S homozygotes with...
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