Article

Decoding the Glycan Signature: Unraveling <i>N</i> -Glycosylation Alterations in Glycogen Storage Disease Ia and Ib

2025-10-23

Abstract excerpt

Glycogen storage disease (GSD) types Ia and Ib are rare inherited metabolic disorders caused by pathogenic variants in G6PC or SLC37A4 , respectively. These defects disrupt glucose homeostasis and may affect protein glycosylation. We systematically profiled sera N -glycomes from retrospectively collected GSD Ia (n=17), GSD Ib (n=8), and control (n=21) samples. Derived traits analyses revealed distinct, subtype-...

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Literature Corpus work: 6973b357-7917-5cc8-82cc-7b404a466186
DOI: 10.1101/2025.10.23.684118

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