Ersoy M - Search Results

1

Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome.

Aksu Uzunhan T, Uyanık B, Ersoy M, Türkmenoğlu Y. Aksu Uzunhan T, et al. Among authors: ersoy m. Acta Neurol Belg. 2022 Feb;122(1):255-256. doi: 10.1007/s13760-022-01885-5. Epub 2022 Feb 5. Acta Neurol Belg. 2022. PMID: 35122617 No abstract available.

2

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

3

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Ersoy M, Uyanik B, Gedikbasi A. Ersoy M, et al. Genes (Basel). 2021 Dec 15;12(12):1987. doi: 10.3390/genes12121987. Genes (Basel). 2021. PMID: 34946936 Free PMC article.

4

Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab.

Barlas UK, Kıhtır HS, Goknar N, Ersoy M, Akcay N, Sevketoglu E. Barlas UK, et al. Among authors: ersoy m. Pediatr Nephrol. 2018 Jun;33(6):1093-1096. doi: 10.1007/s00467-018-3941-3. Epub 2018 Mar 20. Pediatr Nephrol. 2018. PMID: 29558000

5

A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.

Ersoy M, Akyol MB, Ceylaner S, Çakır Biçer N. Ersoy M, et al. Clin Case Rep. 2017 Jun 28;5(8):1284-1288. doi: 10.1002/ccr3.1013. eCollection 2017 Aug. Clin Case Rep. 2017. PMID: 28781843 Free PMC article.

6

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: ersoy m. 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

7

Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy.

Ersoy M, Pişkinpaşa H. Ersoy M, et al. J Pediatr Endocrinol Metab. 2022 Mar 3;35(4):519-527. doi: 10.1515/jpem-2021-0664. Print 2022 Apr 26. J Pediatr Endocrinol Metab. 2022. PMID: 35245971

8

Cerebral infarction and femoral venous thrombosis detected in a patient with diabetic ketoacidosis and heterozygous factor V Leiden G1691A and PAI-1 4G/5G mutations.

Yaroglu Kazanci S, Yesilbas O, Ersoy M, Kihtir HS, Yildirim HM, Sevketoglu E. Yaroglu Kazanci S, et al. Among authors: ersoy m. J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1183-6. doi: 10.1515/jpem-2015-0056. J Pediatr Endocrinol Metab. 2015. PMID: 25968433

9

Acute severe organophosphate poisoning in a child who was successfully treated with therapeutic plasma exchange, high-volume hemodiafiltration, and lipid infusion.

Yesilbas O, Kihtir HS, Altiti M, Petmezci MT, Balkaya S, Bursal Duramaz B, Ersoy M, Sevketoglu E. Yesilbas O, et al. Among authors: ersoy m. J Clin Apher. 2016 Oct;31(5):467-9. doi: 10.1002/jca.21417. Epub 2015 Aug 14. J Clin Apher. 2016. PMID: 26273819

10

A rare structural myopathy: Nemaline myopathy.

Yeşilbaş O, Şevketoğlu E, Kıhtır HS, Ersoy M, Petmezci MT, Akkuş CH, Şahin Ö, Ceylaner S. Yeşilbaş O, et al. Among authors: ersoy m. Turk Pediatri Ars. 2019 Mar 1;54(1):49-52. doi: 10.5152/TurkPediatriArs.2018.4402. eCollection 2019. Turk Pediatri Ars. 2019. PMID: 31217710 Free PMC article.

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