The glucocerebrosidase D409H mutation in Gaucher disease
M Pasmanik-Chor, S Laadan, O Elroy-Stein… - … and molecular medicine, 1996 - Elsevier
Gaucher disease, resulting from the decreased activity of the lysosomal enzyme
glucocerebrosidase, is the most prevalent sphingolipid storage disease. Due to
considerable heterogeneity of phenotypic expression, it has been subdivided into the
nonneurological type 1 disease, and types 2 and 3, the neurological types. We describe
homozygosity for the D409H mutation within the glucocerebrosidase gene associated with a
unique form of type 3 Gaucher disease. Twelve patients, originating from three Arab …
glucocerebrosidase, is the most prevalent sphingolipid storage disease. Due to
considerable heterogeneity of phenotypic expression, it has been subdivided into the
nonneurological type 1 disease, and types 2 and 3, the neurological types. We describe
homozygosity for the D409H mutation within the glucocerebrosidase gene associated with a
unique form of type 3 Gaucher disease. Twelve patients, originating from three Arab …