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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. Ashraf S, et al. Among authors: hacihamdioglu do. J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25. J Clin Invest. 2013. PMID: 24270420 Free PMC article.
Cerebral vein thrombosis in a four year old with Behçet's disease.
Hacihamdioglu DO, Demiriz M, Sobaci G, Kocaoglu M, Demirkaya E, Gok F. Hacihamdioglu DO, et al. Reumatol Clin. 2014 Jul-Aug;10(4):254-6. doi: 10.1016/j.reuma.2013.05.007. Epub 2013 Dec 31. Reumatol Clin. 2014. PMID: 24388639 Free article.
Urinary HSP70 improves diagnostic accuracy for urinary tract infection in children: UTILISE study.
Yilmaz A, Afonso AC, Akil I, Aksu B, Alpay H, Atmis B, Aydog O, Bayazıt AK, Bayram MT, Bilge I, Bulut IK, Buyukkaragoz B, Comak E, Demir BK, Dincel N, Donmez O, Durmus MA, Dursun H, Dusunsel R, Duzova A, Ertan P, Gedikbasi A, Goknar N, Guven S, Hacihamdioglu D, Jankauskiene A, Kalyoncu M, Kavukcu S, Kenan BU, Kucuk N, Kural B, Litwin M, Montini G, Morello W, Nayir A, Obrycki L, Omer B, Ozdemir EM, Ozkayin N, Paripovic D, Pehlivanoglu C, Saygili S, Schaefer S, Sonmez F, Tabel Y, Tas N, Tasdemir M, Teixeira A, Tekcan D, Tulpar S, Turkkan ON, Uysal B, Uysalol M, Vaiciuniene D, Yavuz S, Yel S, Yildirim T, Yildirim ZY, Yildiz N, Yuksel S, Yurtseven E, Schaefer F, Topaloglu R. Yilmaz A, et al. Pediatr Nephrol. 2023 Mar;38(3):791-799. doi: 10.1007/s00467-022-05664-5. Epub 2022 Jul 18. Pediatr Nephrol. 2023. PMID: 35849222
22 results