Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C.
Himmelreich N, et al.
Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16.
Mol Genet Metab. 2023.
PMID: 37245379
PMM2-CDG is the most common defect among the congenital disorders of glycosylation. ...In this study we discuss the impact of metabolite abnormalities on the phenotype of PMM2-CDG. In addition, based on our data we propose new and easy-to-implem …
PMM2-CDG is the most common defect among the congenital disorders of glycosylation. ...In this study we discuss …