Köse M - Search Results

1

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. Case Rep Pediatr. 2017;2017:1045031. doi: 10.1155/2017/1045031. Epub 2017 May 15. Case Rep Pediatr. 2017. PMID: 28589054 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: kose m. 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

Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy.

Canda E, Kose M, Kagnici M, Ucar SK, Sozmen EY, Coker M. Canda E, et al. Among authors: kose m. Blood Cells Mol Dis. 2018 Feb;68:180-184. doi: 10.1016/j.bcmd.2017.01.007. Epub 2017 Jan 16. Blood Cells Mol Dis. 2018. PMID: 28111116 No abstract available.

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. Among authors: kose m. 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

Coexistence of Gaucher Disease and severe congenital neutropenia.

Kose MD, Canda E, Kağnıcı M, Uçar SK, Onay H, Yıldırım Sozmen E, Karapınar D, Özkınay F, Çoker M. Kose MD, et al. Blood Cells Mol Dis. 2019 May;76:1-6. doi: 10.1016/j.bcmd.2018.07.001. Epub 2018 Aug 10. Blood Cells Mol Dis. 2019. PMID: 30473482

6

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: kose e, kose m. J Pediatr Endocrinol Metab. 2019 Jul 26;32(7):675-681. doi: 10.1515/jpem-2018-0457. J Pediatr Endocrinol Metab. 2019. PMID: 31194682

7

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.

Köse MD, Kagnici M, Özdemir TR, Erdur CB, Erdemir G, Karakoyun M, Guzin Y, Ceylaner S, Genel F. Köse MD, et al. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):157-163. doi: 10.1515/jpem-2019-0377. J Pediatr Endocrinol Metab. 2020. PMID: 31809266

8

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

Kose M, Canda E, Kagnici M, Aykut A, Adebali O, Durmaz A, Bircan A, Diniz G, Eraslan C, Kose E, Ünalp A, Yılmaz Ü, Ozyilmaz B, Özdemir TR, Atik T, Uçar SK, McFarland R, Taylor RW, Brown GK, Çoker M, Özkınay F. Kose M, et al. Among authors: kose e. Mol Genet Metab Rep. 2020 Oct 23;25:100657. doi: 10.1016/j.ymgmr.2020.100657. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33134083 Free PMC article.

9

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: kose m. 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.

10

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: kose m. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.

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