ArticleFrontiers in genetics2024

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker.

Ivan Martínez Duncker et al.PubMed ↗Full text ↗Publisher ↗

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