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Page 1
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Zubarioglu T, Kıykım E, Köse E, Eminoğlu FT, Teke Kısa P, Balcı MC, Özer I, İnci A, Çilesiz K, Canda E, Yazıcı H, Öztürk-Hişmi B, Bulut FD, Dorum S, Akgun A, Yalçın-Çakmaklı G, Kılıç-Yıldırım G, Soyuçen E, Akçalı A, Güneş D, Durmuş A, Gündüz A, Kasapkara ÇS, Göksoy E, Akar HT, Ersoy M, Erdöl Ş, Yıldız Y, Hanağası HA, Arslan N, Aktuğlu-Zeybek Ç. Zubarioglu T, et al. Among authors: eminoglu ft. Mol Genet Metab. 2024 Jun;142(2):108493. doi: 10.1016/j.ymgme.2024.108493. Epub 2024 May 13. Mol Genet Metab. 2024. PMID: 38772327
Co-Occurring Atypical Galactosemia and Wilson Disease.
Doğulu N, Kose E, Tuna Kirsaçlioğlu C, Ezgü FS, Kuloğlu Z, Kansu A, Eminoglu FT. Doğulu N, et al. Among authors: eminoglu ft. Mol Syndromol. 2022 Dec;13(5):454-458. doi: 10.1159/000524004. Epub 2022 Apr 27. Mol Syndromol. 2022. PMID: 36588756 Free PMC article.
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: eminoglu ft. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
GPD1 deficiency-a rare, overlooked cause of liver disease.
Türk NE, Belkaya S, Teke S, Kırsaçlıoğlu CT, Eminoğlu FT, Çalıkoğlu T, Kansu A, Kuloglu Z. Türk NE, et al. Among authors: eminoglu ft. J Hum Genet. 2025 Jul;70(7):375-379. doi: 10.1038/s10038-025-01339-9. Epub 2025 Apr 11. J Hum Genet. 2025. PMID: 40216993 Free PMC article.
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S; as the Hong Kong Mitochondrial Diseases Interest Group; Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL. Ivaniuk A, et al. Among authors: eminoglu ft. Neurology. 2025 Feb 25;104(4):e209779. doi: 10.1212/WNL.0000000000209779. Epub 2025 Jan 30. Neurology. 2025. PMID: 39883904
Serum biotin interference: A troublemaker in hormone immunoassays.
Öncül Ü, Eminoğlu FT, Köse E, Doğan Ö, Özsu E, Aycan Z. Öncül Ü, et al. Among authors: eminoglu ft. Clin Biochem. 2022 Jan;99:97-102. doi: 10.1016/j.clinbiochem.2021.10.011. Epub 2021 Nov 1. Clin Biochem. 2022. PMID: 34736903 Clinical Trial.
Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.
Özsaydi Aktaşoğlu E, Inci A, Öktem RM, Biberoğlu G, Okur İ, Ezgü FS, Cengiz Ergin FB, Akgün A, Arslan N, Aydin Hİ, Bozaci AE, Çoker M, Eminoğlu FT, Ersoy M, Göksoy E, Kadioğlu Yilmaz B, Kağnici M, Kiliç M, Önenli Mungan N, Öztürk Hişmi B, Soylu Üstkoyuncu P, Tokatli A, Aktuğlu Zeybek AÇ, Bilginer Gürbüz B, Dorum S, Güneş D, Kasapkara ÇS, Kilavuz S, Soyuçen E, Teke Kisa P, Ünal Uzun Ö, Bulut FD, Gökay S, Has Özhan S, Kor D, Küçükçongar Yavaş A, Özçay F, Yildiz Y, Yildiz H, Tümer L. Özsaydi Aktaşoğlu E, et al. Among authors: eminoglu ft. Turk J Med Sci. 2024 Nov 20;55(3):585-594. doi: 10.55730/1300-0144.6005. eCollection 2025. Turk J Med Sci. 2024. PMID: 40686712 Free PMC article.
84 results