Associated Papers
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG.
Mangione R et al.
Scientific Reports, 2025
Causes of mortality in the congenital disorders of glycosylation.
Alharbi H et al.
Molecular Genetics and Metabolism, 2025
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.
Iyer S et al.
Disease Models & Mechanisms, 2019
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