Kılıç M - Search Results

1

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.

Kılıç M, Kasapkara ÇS, Kılavuz S, Mungan NÖ, Biberoğlu G. Kılıç M, et al. Metab Brain Dis. 2019 Apr;34(2):495-503. doi: 10.1007/s11011-019-0391-y. Epub 2019 Feb 2. Metab Brain Dis. 2019. PMID: 30712135

2

Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.

Kılıç M, Dedeoğlu Ö, Göçmen R, Kesici S, Yüksel D. Kılıç M, et al. Metab Brain Dis. 2017 Apr;32(2):293-296. doi: 10.1007/s11011-016-9928-5. Epub 2016 Nov 9. Metab Brain Dis. 2017. PMID: 27830356

3

A patient with mitochondrial disorder due to a novel mutation in MRPS22.

Kılıç M, Oğuz KK, Kılıç E, Yüksel D, Demirci H, Sağıroğlu MŞ, Yücel-Yılmaz D, Özgül RK. Kılıç M, et al. Among authors: kilic e. Metab Brain Dis. 2017 Oct;32(5):1389-1393. doi: 10.1007/s11011-017-0074-5. Epub 2017 Jul 27. Metab Brain Dis. 2017. PMID: 28752220

4

PMM2-CDG and sensorineural hearing loss.

Kasapkara ÇS, Barış Z, Kılıç M, Yüksel D, Keldermans L, Matthijs G, Jaeken J. Kasapkara ÇS, et al. Among authors: kilic m. J Inherit Metab Dis. 2017 Sep;40(5):629-630. doi: 10.1007/s10545-017-0073-z. Epub 2017 Jul 31. J Inherit Metab Dis. 2017. PMID: 28762107 No abstract available.

5

First cardiac manifestation of hypotonia-cystinuria syndrome.

Kılıç M, Ceylan AC, Örün UA, Kılıç E. Kılıç M, et al. Among authors: kilic e. Metab Brain Dis. 2018 Aug;33(4):1375-1379. doi: 10.1007/s11011-018-0226-2. Epub 2018 Apr 7. Metab Brain Dis. 2018. PMID: 29627929

6

Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center.

Genç Sel Ç, Kılıç M, Yüksel D, Aksoy A, Kasapkara ÇS, Ceylaner S, Oğuz KK. Genç Sel Ç, et al. Among authors: kilic m. Brain Dev. 2018 Nov;40(10):865-875. doi: 10.1016/j.braindev.2018.06.007. Epub 2018 Jun 19. Brain Dev. 2018. PMID: 29929752

7

Reply to 'contribution of the MRPS22 variant and a down mosaic to the phenotype'.

Kılıç M, Kılıç E, Yılmaz DY, Özgül RK. Kılıç M, et al. Among authors: kilic e. Metab Brain Dis. 2018 Dec;33(6):1779-1780. doi: 10.1007/s11011-018-0300-9. Epub 2018 Jul 31. Metab Brain Dis. 2018. PMID: 30066125 No abstract available.

8

Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.

Kılıç M, Kasapkara ÇS, Yılmaz DY, Özgül RK. Kılıç M, et al. Metab Brain Dis. 2019 Oct;34(5):1487-1491. doi: 10.1007/s11011-019-00455-8. Epub 2019 Jul 5. Metab Brain Dis. 2019. PMID: 31278438

9

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.

Olgac A, Öztoprak Ü, Kasapkara ÇS, Kılıç M, Yüksel D, Derinkuyu EB, Taşçı Yıldız Y, Ceylaner S, Ezgu FS. Olgac A, et al. Among authors: kilic m. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245. J Pediatr Endocrinol Metab. 2020. PMID: 31821167

10

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Olgac A, Kasapkara CS, Kilic M, Keskin EY, Sandal G, Cram DS, Haberle J, Torun D. Olgac A, et al. Among authors: kilic m. J Pediatr Endocrinol Metab. 2020 Aug 18;33(10):1349-1352. doi: 10.1515/jpem-2020-0117. J Pediatr Endocrinol Metab. 2020. PMID: 32809955 Free article.

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