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

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‐glycosylation d...

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Detalles Bibliográficos
Autores principales: Lebredonchel, Elodie, Duvet, Sandrine, Douillard, Claire, Foulquier, François, Klein, André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574185/
https://www.ncbi.nlm.nih.gov/pubmed/34765394
http://dx.doi.org/10.1002/jmd2.12247