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Page 1
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Seker Yilmaz B, et al. Among authors: aydin hi. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: aydin hi. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Severe isolated sulfide oxidase deficiency with a novel mutation.
Ergene M, Yarar N, Öncel EP, Sezer T, Çavdarlı B, Ecevit İZ, Aydın Hİ. Ergene M, et al. Among authors: aydin hi. Turk J Pediatr. 2021;63(4):716-720. doi: 10.24953/turkjped.2021.04.021. Turk J Pediatr. 2021. PMID: 34449156 Free article.
Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience.
Olgac A, Kasapkara ÇS, Derinkuyu B, Yüksel D, Çetinkaya S, Aksoy A, Ceylaner S, Güleray N, Yeşilipek A, Aydın Hİ, Orgun LT, Kılıç M. Olgac A, et al. Among authors: aydin hi. J Pediatr Endocrinol Metab. 2021 Jun 24;34(9):1169-1179. doi: 10.1515/jpem-2021-0032. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34162029 Clinical Trial.
49 results