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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Pediatric Society
2012
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| Assuntos: | |
| Acesso em linha: | 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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