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Unsuccessful intravenous D-mannose treatment in PMM2-CDG
BACKGROUND: PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life. While mannose treatment has been shown to correct glycosylation i...
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| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6805611/ https://ncbi.nlm.nih.gov/pubmed/31640729 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1213-3 |
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