Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

BACKGROUND: PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG patients have been unsuccessful. Mannose found...

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Detalles Bibliográficos
Autores principales: Taday, Roman, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510076/
https://www.ncbi.nlm.nih.gov/pubmed/32962735
http://dx.doi.org/10.1186/s13023-020-01528-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510076/
https://www.ncbi.nlm.nih.gov/pubmed/32962735
http://dx.doi.org/10.1186/s13023-020-01528-z

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