An atypical p.N215S variant of Fabry disease with end-stage renal failure

Fabry disease is an X-linked metabolic disorder resulting in widespread deposition of Globotriaosylceramide within a variety of human tissues. The classical Fabry phenotype is one of early onset disease, with extensive tissue involvement resulting in acroparaesthesia, gastrointestinal disturbances,...

Descripción completa

Detalles Bibliográficos
Autores principales: Sugarman, Max, Choudhury, Jamil, Jovanovic, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047461/
https://www.ncbi.nlm.nih.gov/pubmed/30023289
http://dx.doi.org/10.1016/j.ymgmr.2018.01.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047461/
https://www.ncbi.nlm.nih.gov/pubmed/30023289
http://dx.doi.org/10.1016/j.ymgmr.2018.01.006

Ejemplares similares