Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Selwyn Yorke"'
Autor:
Carla Ciccone, Nuria Carrillo, Barry R. Goldspiel, John C. McKew, Nora Yang, May Christine V. Malicdan, Amy Wang, Frank Celeste, Lea Latham, Pramod S. Terse, James Cradock, Marjan Huizing, Xin Xu, William A. Gahl, Selwyn Yorke
Publikováno v:
Molecular Genetics and Metabolism. 122:126-134
GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44382db5a79dafd4e6d16663e67536a
https://doi.org/10.1016/j.ymgme.2017.04.010
https://doi.org/10.1016/j.ymgme.2017.04.010
Autor:
Marjan Huizing, Yifan Shi, Brad Gillespie, Selwyn Yorke, Xin Xu, Nora Yang, Yinghe Li, Michael Zhang, Nuria Carrillo-Carrasco, Meng Fang, John C. McKew, Amy Wang, William A. Gahl
N-Acetylneuraminic acid (Neu5Ac or NANA) is the most predominant sialic acid in mammals. As a terminal component in many glycoproteins and glycolipids, sialic acid is believed to be an important biomarker related to various diseases. Its precursor, N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d63d36d5db22a8df9c1367bae94e8074
https://europepmc.org/articles/PMC4544686/
https://europepmc.org/articles/PMC4544686/
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4731d3118442c090ca460dca8b276014
http://www.scopus.com/inward/record.url?eid=2-s2.0-0343046475&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0343046475&partnerID=MN8TOARS