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

• Main Authors: Justyna Paprocka (Author), Aleksandra Jezela-Stanek (Author), Łukasz Boguszewicz (Author), Maria Sokół (Author), Patryk Lipiński (Author), Ewa Jamroz (Author), Ewa Emich-Widera (Author), Anna Tylki-Szymańska (Author)
• Format: Book
• Published: MDPI AG, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...