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Year Number of Results
2008 1
2009 8
2010 4
2012 3
2013 1
2014 5
2015 4
2016 4
2017 10
2018 5
2019 3
2020 6
2021 2
2022 8
2023 7
2024 6

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63 results

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Page 1
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Canda E, Kalkan Uçar S, Çoker M. Canda E, et al. Among authors: kalkan ucar s. Pediatric Health Med Ther. 2020 May 4;11:127-133. doi: 10.2147/PHMT.S198656. eCollection 2020. Pediatric Health Med Ther. 2020. PMID: 32440248 Free PMC article. Review.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Grünert SC, et al. Among authors: ucar sk. Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3. Genet Med. 2022. PMID: 35503103 Free article.
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M. Yoldas Celik M, et al. Among authors: kalkan ucar s. J Pediatr Endocrinol Metab. 2023 Apr 13;36(6):530-538. doi: 10.1515/jpem-2022-0641. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37042760
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Ozek G, Aksoylar S, Uçar SK, Canda E, Akcan M, Cartı O, Siviş ZO, Oymak Y, Yazıcı H, Bax B, Bulut FD, Yoldaş Çelik M, Erdem F, Çoker M, Kansoy S. Ozek G, et al. Among authors: ucar sk. Pediatr Blood Cancer. 2023 Jul;70(7):e30334. doi: 10.1002/pbc.30334. Epub 2023 Apr 12. Pediatr Blood Cancer. 2023. PMID: 37046411
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Bozaci AE, Er E, Yazici H, Canda E, Kalkan Uçar S, Güvenc Saka M, Eraslan C, Onay H, Habif S, Thöny B, Coker M. Bozaci AE, et al. Among authors: kalkan ucar s. JIMD Rep. 2021 Feb 1;59(1):42-51. doi: 10.1002/jmd2.12199. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977029 Free PMC article.
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Grünert SC, Derks TGJ, Mundy H, Dalton RN, Donadieu J, Hofbauer P, Jones N, Uçar SK, LaFreniere J, Contreras EL, Pendyal S, Rossi A, Schneider B, Spiegel R, Stepien KM, Wesol-Kucharska D, Veiga-da-Cunha M, Wortmann SB. Grünert SC, et al. Among authors: ucar sk. Mol Genet Metab. 2024 Mar;141(3):108144. doi: 10.1016/j.ymgme.2024.108144. Epub 2024 Jan 17. Mol Genet Metab. 2024. PMID: 38277989 Free article. Review.
Long-term follow-up of alkaptonuria patients: single center experience.
Bozaci AE, Yazici H, Canda E, Uçar SK, Guvenc MS, Berdeli A, Habif S, Coker M. Bozaci AE, et al. Among authors: ucar sk. J Pediatr Endocrinol Metab. 2022 Jun 6;35(7):913-923. doi: 10.1515/jpem-2022-0004. Print 2022 Jul 26. J Pediatr Endocrinol Metab. 2022. PMID: 35671204
Severe perinatal hypophosphatasia case with a novel mutation.
Yazici H, Canda E, Kalkan Ucar S, Coker M. Yazici H, et al. Among authors: kalkan ucar s. Arch Argent Pediatr. 2022 Feb;120(1):e21-e24. doi: 10.5546/aap.2022.eng.e21. Epub 2022 Jan 1. Arch Argent Pediatr. 2022. PMID: 35068125 Free article. English, Spanish.
Insulin resistance in children with familial hyperlipidemia.
Terlemez S, Bozdemir E, Kalkan Uçar S, Kabaroğlu C, Habif S, Kayıkçıoğlu M, Çoker M. Terlemez S, et al. Among authors: kalkan ucar s. J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1349-1354. doi: 10.1515/jpem-2018-0337. J Pediatr Endocrinol Metab. 2018. PMID: 30433876
63 results