Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients. A lack of efficacy of short-term mannose supplementation in multiple...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Witters, Peter, Edmondson, Andrew C., Lam, Christina, Johnsen, Christin, Patterson, Marc C., Raymond, Kimiyo M., He, Miao, Freeze, Hudson H., Morava, Eva
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Letter to the Editor
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7908710/
https://ncbi.nlm.nih.gov/pubmed/33632285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01751-2
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