Şeker-Yılmaz B - Search Results

1

Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.

Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N. Kör D, et al. Turk J Pediatr. 2019;61(3):330-336. doi: 10.24953/turkjped.2019.03.003. Turk J Pediatr. 2019. PMID: 31916709 Free article.

2

A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI.

Kör D, Şeker Yilmaz B, Bulut FD, Önenli Mungan N, Ufuk Altıntaş D. Kör D, et al. J Investig Allergol Clin Immunol. 2016;26(2):130-2. doi: 10.18176/jiaci.0030. J Investig Allergol Clin Immunol. 2016. PMID: 27164636 Free article. No abstract available.

3

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

Önenli-Mungan N, Kör D, Karabay-Bayazıt A, Cengiz N, Yavuz S, Noyan A, Ceylaner G, Şeker-Yılmaz B, Topaloğlu AK, Yüksel B, Anarat A. Önenli-Mungan N, et al. Turk J Pediatr. 2016;58(4):362-370. doi: 10.24953/turkjped.2016.04.003. Turk J Pediatr. 2016. PMID: 28276207 Free article.

4

Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Bulut FD, Kör D, Şeker-Yılmaz B, Gül-Mert G, Kılavuz S, Önenli-Mungan N. Bulut FD, et al. Metab Brain Dis. 2018 Jun;33(3):977-979. doi: 10.1007/s11011-017-0152-8. Epub 2017 Nov 20. Metab Brain Dis. 2018. PMID: 29159724

5

Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.

Seker Yilmaz B, Mungan NO, Kor D, Bulut D, Seydaoglu G, Öktem M, Ceylaner S. Seker Yilmaz B, et al. J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):339-343. doi: 10.1515/jpem-2017-0406. J Pediatr Endocrinol Metab. 2018. PMID: 29353266

6

p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.

Şeker-Yılmaz B, Kör D, Tümgör G, Ceylaner S, Önenli-Mungan N. Şeker-Yılmaz B, et al. Turk J Pediatr. 2017;59(3):311-314. doi: 10.24953/turkjped.2017.03.012. Turk J Pediatr. 2017. PMID: 29376577 Free article.

7

Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.

Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N. Şeker-Yılmaz B, et al. Turk J Pediatr. 2017;59(4):434-441. doi: 10.24953/turkjped.2017.04.010. Turk J Pediatr. 2017. PMID: 29624224 Free article.

8

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.

Bulut FD, Kör D, Şeker-Yılmaz B, Hergüner Ö, Ceylaner S, Özkınay F, Kılavuz S, Önenli-Mungan N. Bulut FD, et al. Metab Brain Dis. 2018 Aug;33(4):1223-1227. doi: 10.1007/s11011-018-0236-0. Epub 2018 Apr 14. Metab Brain Dis. 2018. PMID: 29656334

9

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.

Şeker Yılmaz B, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Önenli Mungan HN. Şeker Yılmaz B, et al. Turk J Med Sci. 2021 Jun 28;51(3):1220-1228. doi: 10.3906/sag-2001-72. Turk J Med Sci. 2021. PMID: 33453710 Free PMC article.

10

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.

Kılavuz S, Bulut D, Kor D, Şeker-Yılmaz B, Özcan N, Incecik F, Onan B, Ceylaner G, Önenli-Mungan N. Kılavuz S, et al. Among authors: seker yilmaz b. Neuropediatrics. 2021 Oct;52(5):358-369. doi: 10.1055/s-0040-1722691. Epub 2021 Feb 12. Neuropediatrics. 2021. PMID: 33578440

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