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...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley
2024-05-01
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| Edice: | JIMD Reports |
| Témata: | |
| On-line přístup: | https://doi.org/10.1002/jmd2.12415 |
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