The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant

• Auteurs principaux: Justyna Paprocka (Auteur), Aleksandra Jezela-Stanek (Auteur), Łukasz Boguszewicz (Auteur), Maria Sokół (Auteur), Patryk Lipiński (Auteur), Ewa Jamroz (Auteur), Ewa Emich-Widera (Auteur), Anna Tylki-Szymańska (Auteur)
• Format: Livre
• Publié: MDPI AG, 2021-03-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Background: ALG13-CDG belongs to the congenital disorders of glycosylation (CDG), which is an expanding group of multisystemic metabolic disorders caused by the N-linked, O-linked oligosaccharides, shared substrates, glycophosphatidylinositol (GPI) anchors, and dolichols pathways with high genetic h...