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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: szabo aj. 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.
Bone metabolism and mineral density following renal transplantation.
Reusz GS, Szabó AJ, Péter F, Kenesei E, Sallay P, Latta K, Szabó A, Szabó A, Tulassay T. Reusz GS, et al. Among authors: szabo a, szabo aj. Arch Dis Child. 2000 Aug;83(2):146-51. doi: 10.1136/adc.83.2.146. Arch Dis Child. 2000. PMID: 10906024 Free PMC article.
Signs of autonomic neuropathy in childhood uremia.
Tory K, Sallay P, Tóth-Heyn P, Szabó A, Szabó A, Tulassay T, Reusz GS. Tory K, et al. Pediatr Nephrol. 2001 Jan;16(1):25-8. doi: 10.1007/s004670000484. Pediatr Nephrol. 2001. PMID: 11198598
Cardiovascular risk assessment in children with chronic kidney disease.
Shroff R, Dégi A, Kerti A, Kis E, Cseprekál O, Tory K, Szabó AJ, Reusz GS. Shroff R, et al. Among authors: szabo aj. Pediatr Nephrol. 2013 Jun;28(6):875-84. doi: 10.1007/s00467-012-2325-3. Epub 2012 Oct 16. Pediatr Nephrol. 2013. PMID: 23070276 Review.
The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.
Szilágyi A, Kiss N, Bereczki C, Tálosi G, Rácz K, Túri S, Györke Z, Simon E, Horváth E, Kelen K, Reusz GS, Szabó AJ, Tulassay T, Prohászka Z. Szilágyi A, et al. Among authors: szabo aj. Nephrol Dial Transplant. 2013 Sep;28(9):2237-45. doi: 10.1093/ndt/gft198. Epub 2013 Jun 19. Nephrol Dial Transplant. 2013. PMID: 23787556
180 results