Gaucher Disease: Enzymatic and Molecular Studies
Data up to Jan 2025
Total Citations Per Year
Abstract
References (24)
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1984 • 70 citations
Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes.
1986 • 65 citations
Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting.
1987 • 65 citations
Genetic heterogeneity in Gaucher disease: Physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non‐neuronopathic and neuronopathic patients
1985 • 65 citations
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Human acid β-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites
1987 • 51 citations
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1984 • 45 citations
Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.
1985 • 43 citations
Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.
1986 • 37 citations
Human Acid ß-Glucosidase: Inhibition Studies Using Glucose Analogues and pH Variation to Characterize the Normal and Gaucher Disease Glycon Binding Sites
1988 • 35 citations
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.
1986 • 32 citations
Human Acid Beta-Glucosidase: Affinity Purification of the Normal Placental and Gaucher Disease Splenic Enzymes on N - Alkyl-Deoxy nojirimy cin-Sepharose
1986 • 25 citations