Canda E - Search Results

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.

2

One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency.

Uçar SK, Ozbaran B, Altinok YA, Kose M, Canda E, Kagnici M, Coker M. Uçar SK, et al. Among authors: canda e. JIMD Rep. 2015;19:31-3. doi: 10.1007/8904_2014_361. Epub 2015 Feb 10. JIMD Rep. 2015. PMID: 25665834 Free PMC article.

3

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate.

Köse M, Canda E, Kagnici M, Uçar SK, Çoker M. Köse M, et al. Among authors: canda e. Case Rep Pediatr. 2017;2017:1045031. doi: 10.1155/2017/1045031. Epub 2017 May 15. Case Rep Pediatr. 2017. PMID: 28589054 Free PMC article.

4

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Canda E, Yazici H, Er E, Kose M, Basol G, Onay H, Ucar SK, Habif S, Ozkinay F, Coker M. Canda E, et al. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):917-926. doi: 10.1515/jpem-2018-0148. J Pediatr Endocrinol Metab. 2018. PMID: 29995633 Free article. Clinical Trial.

5

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.

Teke Kisa P, Kose M, Unal O, Er E, Hismi BO, Bulbul FS, Kose E, Gunduz M, Canda E, Kucukcongar A, Arslan N. Teke Kisa P, et al. Among authors: canda e. J Pediatr Endocrinol Metab. 2019 Jul 26;32(7):675-681. doi: 10.1515/jpem-2018-0457. J Pediatr Endocrinol Metab. 2019. PMID: 31194682

6

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.

Ozkinay F, Emecen DA, Kose M, Isik E, Bozaci AE, Canda E, Tuysuz B, Zubarioglu T, Atik T, Onay H. Ozkinay F, et al. Among authors: canda e. Mol Genet Metab Rep. 2021 Mar 12;27:100732. doi: 10.1016/j.ymgmr.2021.100732. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33747789 Free PMC article.

7

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.

8

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.

Karataş MÇ, Yazıcı H, Bozacı AE, Canda E, Levent E, Uçar SK, Çoker M. Karataş MÇ, et al. Among authors: canda e. Arch Argent Pediatr. 2022 Feb;120(1):e25-e28. doi: 10.5546/aap.2022.eng.e25. Epub 2022 Jan 1. Arch Argent Pediatr. 2022. PMID: 35068126 Free article. English, Spanish.

9

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

10

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.

Yazıcı H, Ak G, Çelik MY, Erdem F, Yanbolu AY, Er E, Bozacı AE, Güvenç MS, Aykut A, Durmaz A, Canda E, Uçar SK, Çoker M. Yazıcı H, et al. Among authors: canda e. J Pediatr Endocrinol Metab. 2023 Nov 7;37(1):33-41. doi: 10.1515/jpem-2023-0298. Print 2024 Jan 29. J Pediatr Endocrinol Metab. 2023. PMID: 37925743

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