Article
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Human mutation - 1 Jan 2000
Stone D L, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E
Abstract excerpt
Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2 Gaucher disease, the rarest type, is progressive and fatal. We have performed molecular analyses of a cohort of 31 patients with type 2 Gaucher...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.