Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report

RATIONALE: Gaucher disease (GD), characterized by glucosylceramide accumulation in the macrophage-monocyte system, is caused by glucosidase b acid (GBA) gene mutations which lead to the deficiency of lysosomal enzyme glucocerebrosidase. The mutation spectrum of GBA in Chinese patients is quite diffe...

Descripción completa

Detalles Bibliográficos
Autores principales: Du, Xiaoli, Ding, Qian, Chen, Qi, Guo, Pengxiang, Wang, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393014/
https://www.ncbi.nlm.nih.gov/pubmed/30461613
http://dx.doi.org/10.1097/MD.0000000000013161

Ejemplares similares

Ejemplares similares