N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant

Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive glycoprofile analysis of a male patient with a novel missense variant in the SLC35A2 gene, coding a galac...

Descripción completa

Detalles Bibliográficos
Autores principales: Kodríková, Rebeka, Pakanová, Zuzana, Krchňák, Maroš, Šedivá, Mária, Šesták, Sergej, Květoň, Filip, Beke, Gábor, Šalingová, Anna, Skalická, Katarína, Brennerová, Katarína, Jančová, Emília, Baráth, Peter, Mucha, Ján, Nemčovič, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9952902/
https://www.ncbi.nlm.nih.gov/pubmed/36831116
http://dx.doi.org/10.3390/biomedicines11020580

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9952902/
https://www.ncbi.nlm.nih.gov/pubmed/36831116
http://dx.doi.org/10.3390/biomedicines11020580

Ejemplares similares