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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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Sparad:
Huvudupphov: Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt
Materialtyp: Artigo
Språk:Inglês
Utgiven: Elsevier 2020-12-01
Serie:Molecular Genetics and Metabolism Reports
Ämnen:
Congenital disorders of glycosylation
Fucose
Mass spectrometry
Therapy
Länkar:http://www.sciencedirect.com/science/article/pii/S2214426920301269
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