Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.

doi:10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B

Article

Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.

Human mutation - 1 Jan 1997

Boot R G, Hollak C E, Verhoek M, Sloof P, Poorthuis B J, Kleijer W J, Wevers R A, van Oers M H, Mannens M M, Aerts J M, van Weely S

Abstract excerpt

Gaucher disease is a recessively inherited lysosomal storage disorder that is caused by a deficiency in glucocerebrosidase activity. The clinical expression is markedly heterogeneous with respect to age of onset, progression, severity, and neurological involvement. The relative incidence of gluco...

Topics

Blotting, Southern
Female
Gaucher Disease
Genotype
Glucosylceramidase
Humans
Male
Netherlands
Pedigree
Prognosis

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