Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis
Congenital disorders of glycosylation (CDG) are a group of rare metabolic disorders caused by the defects in the glycosylation pathways of biomacromolecules leading to altered glycoprofiles in affected individuals. In this case study, we present a 3-year-old Slovak male patient with developmental de...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2025-12-01
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| Serie: | Molecular Genetics and Metabolism Reports |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S2214426925000783 |
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