Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

ABSTRACT For the first time the glycosylation of a patient with a MPI‐CDG during pregnancy is monitored. MPI‐CDG, is characterised by a deficiency in mannose‐6‐phosphate isomerase (MPI) leading to a reduced pool of glycosylation precursors, impairing the biosynthesis of N‐glycans leading to N‐glycos...

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Auteurs principaux: Elodie Lebredonchel, Sandrine Duvet, Claire Douillard, François Foulquier, André Klein
Format: article
Langue:EN
Publié: Wiley 2021
Sujets:
CDG
MPI
Accès en ligne:https://doaj.org/article/ead49bbddb1644f689b4f75152da451e
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