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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 1
2010 2
2011 1
2014 1
2015 1
2016 1
2017 5
2018 4
2019 4
2020 2
2021 2
2022 8
2023 8
2024 5

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38 results

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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: canda e. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
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: canda e. 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.
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: canda e. Pediatr Blood Cancer. 2023 Jul;70(7):e30334. doi: 10.1002/pbc.30334. Epub 2023 Apr 12. Pediatr Blood Cancer. 2023. PMID: 37046411
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: canda e. 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
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: canda e. 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: canda e. 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.
38 results