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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2022
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| 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 |