Zobrazeno 1 - 2
of 2
pro vyhledávání: '"John Karl L. de Dios"'
Autor:
John C. McKew, Nuria Carrillo-Carrasco, Kayla Williams, William A. Gahl, May Christine V. Malicdan, John Karl L. de Dios, Carla Ciccone, Galen O. Joe, Marjan Huizing, Jeffrey C. McClean, David A. Bluemke, Ami Mankodi, Robert Evers, Joseph A. Shrader
Publikováno v:
Neuromuscular Disorders. 24:1063-1067
GNE myopathy is a rare autosomal recessive muscle disease caused by mutations in GNE, the gene encoding the rate-limiting enzyme in sialic acid biosynthesis. GNE myopathy usually manifests in early adulthood with distal myopathy that progresses slowl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d9362b3d8122c119fa7e74feb936ec
https://doi.org/10.1016/j.nmd.2014.07.006
https://doi.org/10.1016/j.nmd.2014.07.006
Autor:
Thierry Vilboux, Carla Ciccone, Marjan Huizing, John C. McKew, John Karl L. de Dios, Frank Celeste, May Christine V. Malicdan, Petcharat Leoyklang, William A. Gahl, Nuria Carrillo-Carrasco
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81955d109c86831422394bc5cf4ce0e7
https://europepmc.org/articles/PMC4172345/
https://europepmc.org/articles/PMC4172345/
