Article
Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.
Molecular genetics and metabolism - 1 Jan 2002
Whitfield Phillip D, Nelson Paul, Sharp Peter C, Bindloss Colleen A, Dean Caroline, Ravenscroft Elaine M, Fong Beverley A, Fietz Michael J, Hopwood John J, Meikle Peter J
Abstract excerpt
Gaucher disease is a lysosomal storage disorder characterized by a deficiency of the enzyme acid beta-glucosidase. The clinical manifestations of Gaucher disease are highly variable, and although certain genotypes are often associated with mild or severe symptoms, a defined correlation between genotype and phenotype does not exist. Identification of biochemical markers characteristic of pathology may be of use in...
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