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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Autores principales: Elodie Lebredonchel, Sandrine Duvet, Claire Douillard, François Foulquier, André Klein
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
CDG
MPI
Acceso en línea:https://doaj.org/article/ead49bbddb1644f689b4f75152da451e
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