Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later-onset one. To investigate the biochemical hetero...

Descripción completa

Detalles Bibliográficos
Autores principales: Tsukimura, Takahiro, Nakano, Sachie, Togawa, Tadayasu, Tanaka, Toshie, Saito, Seiji, Ohno, Kazuki, Shibasaki, Futoshi, Sakuraba, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121323/
https://www.ncbi.nlm.nih.gov/pubmed/27896103
http://dx.doi.org/10.1016/j.ymgmr.2014.07.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121323/
https://www.ncbi.nlm.nih.gov/pubmed/27896103
http://dx.doi.org/10.1016/j.ymgmr.2014.07.005

Ejemplares similares