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Original Article

Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim, Chang-Woo Jung, Jin Lee, Jin-Ho Choi, Han-Wook Yoo

Clin Exp Pediatr. 2012;55(2):48-53. Published online February 14, 2012

Crossref 15

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 non-neuronopathic type, 2 with acute neuronopathic type,...

DOI: https://doi.org/10.3345/kjp.2012.55.2.48

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