Cargando…
Genetic and clinical characteristics of Filipino patients with Gaucher disease
Gaucher disease (GD) is a lysosomal storage disorder caused by the deficiency of the β-glucocerebrosidase enzyme due to disease causing mutations in the GBA1 (glucosidase beta acid) gene, leading to the abnormal accumulation of the lipid glucocerebroside in lysosomal macrophages. This is a review of...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047105/ https://www.ncbi.nlm.nih.gov/pubmed/30023299 http://dx.doi.org/10.1016/j.ymgmr.2018.03.010 |