Article
Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
Blood cells, molecules & diseases - 1 Jan 2000
Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns J R K, Svasti J, Visudtibhan A, Pangkanon S
Abstract excerpt
Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficiency of the lysosomal enzyme glucocerebrosidase. Three clinical phenotypes, type 1, nonneuronopathic; and types 2 and 3, acute and subacute neuronopathic are recognized. The incidence of Gaucher disease in the Thai population is unknown, but likely under-diagnosed. We performed molecular analysis in four patients, from three...
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