<i>N</i>-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant

<i>N</i>-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 <i>SLC35A2</i> g...

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Bibliographic Details
Main Authors: Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták, Filip Květoň, Gábor Beke, Anna Šalingová, Katarína Skalická, Katarína Brennerová, Emília Jančová, Peter Baráth, Ján Mucha, Marek Nemčovič
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Biomedicines
Subjects:
congenital disorders of glycosylation
glycoprofiling
SLC35A2-CDG
Online Access:https://www.mdpi.com/2227-9059/11/2/580

Internet

https://www.mdpi.com/2227-9059/11/2/580

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