Open AccessUpdated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports
Author(s) -
Kuerbanjiang Abuduxikuer,
Lei Wang,
Lin Zhang,
Cui-Yan Cao,
Long Yu,
Hongmei Guo,
Xinmiao Liang,
Jianshe Wang,
Li Chen
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i21.7397
Subject(s) - medicine , glycosylation , glycomics , glycan , immunology , pathology , biochemistry , biology , glycoprotein
Mannosyl-oligosaccharide glucosidase (MOGS) deficiency is an extremely rare type of congenital disorder of glycosylation (CDG), with only 12 reported cases. Its clinical, genetic, and glycomic features are still expanding. Our aim is to update the novel clinical and glycosylation features of 2 previously reported patients with MOGS-CDG.