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...
| Published in: | Molecular Genetics and Metabolism Reports |
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| Main Authors: | , , , , , , , , |
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-12-01
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| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000783 |