- Original Article
- Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
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Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim, Chang-Woo Jung, Jin Lee, Jin-Ho Choi, Han-Wook Yoo
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Clin Exp Pediatr. 2012;55(2):48-53. Published online February 14, 2012
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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. MethodsClinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. ResultsEleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type,... |
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