L-Fucose treatment of FUT8-CDG

FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities. Due to the severe phenotype, oral L-fucose supplementation was star...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Park, Julien H., Reunert, Janine, He, Miao, Mealer, Robert G., Noel, Maxence, Wada, Yoshinao, Grüneberg, Marianne, Horváth, Judit, Cummings, Richard D., Schwartz, Oliver, Marquardt, Thorsten
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7719959/
https://ncbi.nlm.nih.gov/pubmed/33312876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100680
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