A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types.

doi:10.1097/00005072-199103000-00002

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Article

A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types.

Journal of neuropathology and experimental neurology - 1 Mar 1991

Glew R H, Gopalan V, Hubbell C A, Beutler E, Geil J D, Lee R E

Abstract excerpt

Systemic findings such as hepatosplenomegaly and typical Gaucher storage cells in a bone marrow aspirate led to the clinical diagnosis of Gaucher's disease in the seven-year old patient described in this report. On the basis of the lack of neurologic involvement the child was classified as having the Type 1, nonneurologic form of Gaucher's disease. After splenectomy glucocerebrosidase was extracted from her...

Topics

Child
DNA
Female
Gaucher Disease
Glucosylceramidase
Humans
Mutation
Phosphatidylserines
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Spleen

Taurodeoxycholic Acid

beta-Glucosidase

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