<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> gene, coding...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI AG
2023-02-01
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| Saila: | Biomedicines |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.mdpi.com/2227-9059/11/2/580 |
| Etiketak: |
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