Phenotype variations in Gaucher disease
Author:
Publisher
Elsevier BV
Subject
Gastroenterology,Internal Medicine
Reference9 articles.
1. Metabolism of glucocerebrosides. II. Evidence of enzymatic deficiency in Gaucher's disease;Brady;Biochem Biophys Res Commun,1965
2. A deficiency of glucocerebrosidase in Gaucher's disease;Patrick;Biochem J,1965
3. Gaucher disease: complexity in a “simple” disorder;Sidransky;Mol Genet Metab,2004
4. Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy;Mistry;Mol Genet Metab,2002
5. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene;Dahl;Am J Hum Genet,1990
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