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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: reusz g. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
Urinary calcium and oxalate excretion in children.
Reusz GS, Dobos M, Byrd D, Sallay P, Miltényi M, Tulassay T. Reusz GS, et al. Pediatr Nephrol. 1995 Feb;9(1):39-44. doi: 10.1007/BF00858966. Pediatr Nephrol. 1995. PMID: 7742220 Clinical Trial.
Altered Na(+)-K+ ATPase activity in uraemic adolescents.
Vásárhelyi B, Sallay P, Balog E, Reusz G, Tulassay T. Vásárhelyi B, et al. Among authors: reusz g. Acta Paediatr. 1996 Aug;85(8):919-22. doi: 10.1111/j.1651-2227.1996.tb14186.x. Acta Paediatr. 1996. PMID: 8863871
182 results