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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Detalles Bibliográficos
Autores principales: Grünert, Sarah C., Marquardt, Thorsten, Lausch, Ekkehart, Fuchs, Hans, Thiel, Christian, Sutter, Martin, Schumann, Anke, Hannibal, Luciana, Spiekerkoetter, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805611/
https://www.ncbi.nlm.nih.gov/pubmed/31640729
http://dx.doi.org/10.1186/s13023-019-1213-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805611/
https://www.ncbi.nlm.nih.gov/pubmed/31640729
http://dx.doi.org/10.1186/s13023-019-1213-3

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