Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Classical galactosaemia (OMIM #230400), a rare disorder of carbohydrate metabolism, is caused by a deficient activity of galactose-1-phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long-term complications, mainly cognitive, neurological and female fertility problems remains poo...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Maratha, Ashwini, Stockmann, Henning, Coss, Karen P, Estela Rubio-Gozalbo, M, Knerr, Ina, Fitzgibbon, Maria, McVeigh, Terri P, Foley, Patricia, Moss, Catherine, Colhoun, Hugh-Owen, van Erven, Britt, Stephens, Kelly, Doran, Peter, Rudd, Pauline, Treacy, Eileen
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070905/
https://ncbi.nlm.nih.gov/pubmed/26733289
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.254
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki