Use of fluorescent substrates for characterization of Gaucher disease mutations
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference38 articles.
1. Metabolism of glucocerebrosidase II. Evidence of an enzymatic deficiency in Gaucher's disease.;Brady;Biochem. Biophys. Res. Commun.,1965
2. Gaucher disease;Beutler,1995
3. Gaucher disease, a paradigm for single gene defects;Beutler;Experientia,1995
4. Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease;Grabowski;Crit. Rev. Biochem. Mol. Biol.,1990
5. Glucocerebrosidase (Gaucher disease);Beutler;Hum. Mut.,1996
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