Kose M - 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: kose m. 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: 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

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.

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

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

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: 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.

7

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Bozaci AE, Er E, Ünal AT, Taş İ, Ayaz E, Ozbek MN, Durmaz A, Aykut A, Kose M. Bozaci AE, et al. Among authors: kose m. Mol Genet Metab Rep. 2023 May 23;36:100979. doi: 10.1016/j.ymgmr.2023.100979. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37275239 Free PMC article.

8

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.

9

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

10

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.

Kose M, Isik E, Aykut A, Durmaz A, Kose E, Ersoy M, Diniz G, Adebali O, Ünalp A, Yilmaz Ü, Karaoğlu P, Edizer S, Tekin HG, Özdemir TR, Atik T, Onay H, Özkınay F. Kose M, et al. Among authors: kose e. J Pediatr Endocrinol Metab. 2021 Feb 24;34(4):417-430. doi: 10.1515/jpem-2020-0410. Print 2021 Apr 27. J Pediatr Endocrinol Metab. 2021. PMID: 33629572

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