[Gaucher disease].

Article

[Gaucher disease].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1995

Ohashi T

Abstract excerpt

Gaucher disease is an inherited metabolic disease characterized by deficient activity of lysosomal enzyme, known as a glucocerebrosidase. Three clinical phenotype were documented depends on the onset of disease and neuronal involvement. Deficient activity of glucocerebrosidase results in progress...

Topics

Bone Marrow Transplantation
Gaucher Disease
Glucosylceramidase
Humans
Lysosomes
Mutation
Prenatal Diagnosis

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