Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

PurposeGaucher 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 w...

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Main Authors: Ju-Young Lee (Author), Beom Hee Lee (Author), Gu-Hwan Kim (Author), Chang-Woo Jung (Author), Jin Lee (Author), Jin-Ho Choi (Author), Han-Wook Yoo (Author)
Format: Book
Published: Korean Pediatric Society, 2012-02-01T00:00:00Z.
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