Download - Shortcast: MOGS-CDG: Quantitative analysis of a diagnostic biomarker & phenotype of 6 new cases

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Science

Shortcast: MOGS-CDG: Quantitative analysis of a diagnostic biomarker & phenotype of 6 new cases

2023-02-28

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Merel Post discusses her group's work to describe 6 individuals with MOGS-CDG and the utility of a tetrasaccharide biomarker for confirming diagnosis and possibly for treatment monitoring in future. MOGS-CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases Merel A. Post, et al https://doi.org/10.1002/jimd.12588