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Page 1
Response to the letter by Schmitt et al.
Kelestemur E, Yarar MH, Gurpinar Tosun B, Karaca M, Yilmaz Goler AM, Karademir Yilmaz B, Yapici O, Gokcay G, Guran T. Kelestemur E, et al. Among authors: karaca m. Eur J Endocrinol. 2025 Aug 29;193(3):L17. doi: 10.1093/ejendo/lvaf175. Eur J Endocrinol. 2025. PMID: 40838348 No abstract available.
Primary adrenal insufficiency in patients with CPOX gene mutations.
Kelestemur E, Yarar MH, Gurpinar Tosun B, Karaca M, Goler AMY, Yilmaz BK, Yapici O, Gokcay G, Guran T. Kelestemur E, et al. Among authors: karaca m. Eur J Endocrinol. 2025 Apr 30;192(5):K31-K37. doi: 10.1093/ejendo/lvaf089. Eur J Endocrinol. 2025. PMID: 40296768
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A. Tangeraas T, et al. Among authors: karaca m. Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. Brain. 2023. PMID: 36729635
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Balci MC, Kor D, Yildiz Y, Karaca M, Bulut FD, Kahraman AB, Yesil A, Burgac E, Ciki K, Selamioglu A, Koseci B, Durmus A, Kaplan I, Kara E, Mungan HN, Sivri S, Gokcay GF, Tokatli A, Demirkol M, Coskun T, Ozalp I. Balci MC, et al. Among authors: karaca m. Orphanet J Rare Dis. 2025 Aug 1;20(1):394. doi: 10.1186/s13023-025-03702-7. Orphanet J Rare Dis. 2025. PMID: 40751258 Free PMC article.
41 results