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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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Grünert, Sarah C., Marquardt, Thorsten, Lausch, Ekkehart, Fuchs, Hans, Thiel, Christian, Sutter, Martin, Schumann, Anke, Hannibal, Luciana, Spiekerkoetter, Ute
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Research
Accesso online: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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