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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

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