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ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E. Shah R, et al. Among authors: radenkovic s. Mol Genet Metab. 2024 Apr 23;142(2):108472. doi: 10.1016/j.ymgme.2024.108472. Online ahead of print. Mol Genet Metab. 2024. PMID: 38703411 Review.
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. Garapati K, et al. Among authors: radenkovic s. JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509. JCI Insight. 2024. PMID: 38587076 Free PMC article.
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T. Radenkovic S, et al. Cell Rep. 2024 Mar 26;43(3):113883. doi: 10.1016/j.celrep.2024.113883. Epub 2024 Mar 1. Cell Rep. 2024. PMID: 38430517 Free article.
121 results