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...

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Detalles Bibliográficos
Autores principales: Chiong, Mary Anne D., Racoma, Marie Julianne C., Abacan, Mary Ann R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research Paper
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

Internet

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

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