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Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports

BACKGROUND: 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 feature...

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Detalles Bibliográficos
Autores principales: Abuduxikuer, Kuerbanjiang, Wang, Lei, Zou, Lin, Cao, Cui-Yan, Yu, Long, Guo, Hong-Mei, Liang, Xin-Miao, Wang, Jian-She, Chen, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353930/
https://www.ncbi.nlm.nih.gov/pubmed/36158009
http://dx.doi.org/10.12998/wjcc.v10.i21.7397