Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Abstract ALG1‐CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N‐acetylglucosamine (GlcNAc2)‐pyrophosphate (PP)‐dolichol to the growing oligosaccharide chain, resulting in impaired N‐glycosylation of proteins. N‐glycosylation has a key r...
-д хадгалсан:
| Үндсэн зохиолчид: | , , , , |
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| Формат: | Artigo |
| Хэл сонгох: | Inglês |
| Хэвлэсэн: |
Wiley
2024-05-01
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| Цуврал: | JIMD Reports |
| Нөхцлүүд: | |
| Онлайн хандалт: | https://doi.org/10.1002/jmd2.12415 |
| Шошгууд: |
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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