Suggestions

Du même auteur

SLC37A4‐CDG : Second patient

Archive ouverte | Wilson, Matthew P. | CCSD

International audience. Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose-6-phosphate transporter to t...

Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation

Archive ouverte | Blommaert, Eline | CCSD

International audience. Mutations in the X-linked gene MAGT1 cause a Congenital Disorder of Glycosylation (CDG), with two distinct clinical phenotypes: a primary immunodeficiency (XMEN disorder) versus intellectual ...

MAN1B1 deficiency: an unexpected CDG-II

Archive ouverte | Rymen, Daisy | CCSD

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unso...

Chargement des enrichissements...