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Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

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 cour...

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Autori principali: Lee, Ju-Young, Lee, Beom Hee, Kim, Gu-Hwan, Jung, Chang-Woo, Lee, Jin, Choi, Jin-Ho, Yoo, Han-Wook
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Pediatric Society 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3286762/
https://ncbi.nlm.nih.gov/pubmed/22375149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2012.55.2.48
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