Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts-Reference-Cited by-同舟云学术

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts

Published:1991-06 Issue:4 Volume:1096 Page:301-311
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Van Weely Sonja,Van Leeuwen Marinella B.,Jansen Ineke D.C.,De Bruijn Marianne A.C.,Brouwer-Kelder Elisabeth M.,Schram AndréW.,Sa Miranda M.Clara,Barranger John A.,Petersen Evelyn M.,Goldblatt Jack,Stotz Harald,Schwarzmann Günther,Sandhoff Konrad,Svennerholm Lars,Erikson Anders,Tager Joseph M.,Aerts Johannes M.F.G.

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference30 articles.

1. The Metabolic Basis of Inherited Disease;Barranger,1989

2. Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

3. A Deficiency of Glucocerebrosidase in Gaucher's Disease

4. A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease

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