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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Detalles Bibliográficos
Autores principales: Lee, Ju-Young, Lee, Beom Hee, Kim, Gu-Hwan, Jung, Chang-Woo, Lee, Jin, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286762/
https://www.ncbi.nlm.nih.gov/pubmed/22375149
http://dx.doi.org/10.3345/kjp.2012.55.2.48

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286762/
https://www.ncbi.nlm.nih.gov/pubmed/22375149
http://dx.doi.org/10.3345/kjp.2012.55.2.48

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