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Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

1 Jan 2012

Abstract excerpt

PURPOSE: Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. METHODS: Clinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. RESULTS: Eleven patients were diagnosed with...

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PMID: 22375149
DOI: 10.3345/kjp.2012.55.2.48

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