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

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...

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Detalles Bibliográficos
Autores principales: Paprocka, Justyna, Jezela-Stanek, Aleksandra, Boguszewicz, Łukasz, Sokół, Maria, Lipiński, Patryk, Jamroz, Ewa, Emich-Widera, Ewa, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8004727/
https://www.ncbi.nlm.nih.gov/pubmed/33807002
http://dx.doi.org/10.3390/children8030251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8004727/
https://www.ncbi.nlm.nih.gov/pubmed/33807002
http://dx.doi.org/10.3390/children8030251

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