Kılıç M - Search Results

1

Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant.

Yıldız Y, Uysal Yazıcı M, Çınar HG, Özbay Hoşnut F, Kurt Çolak F, Kılıç M. Yıldız Y, et al. Among authors: kilic m. Pancreatology. 2020 Jun;20(4):644-646. doi: 10.1016/j.pan.2020.03.008. Epub 2020 Mar 13. Pancreatology. 2020. PMID: 32205061

2

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Bayrak H, Yıldız Y, Olgaç A, Kasapkara ÇS, Küçükcongar A, Zenciroğlu A, Yüksel D, Ceylaner S, Kılıç M. Bayrak H, et al. Among authors: kilic m. Metab Brain Dis. 2021 Aug;36(6):1213-1222. doi: 10.1007/s11011-021-00718-3. Epub 2021 Apr 1. Metab Brain Dis. 2021. PMID: 33791923

3

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

4

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

5

Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.

Kılıç M, Dorum S, Topak A, Yazıcı MU, Ezgu FS, Coskun T. Kılıç M, et al. Am J Med Genet A. 2020 Jul;182(7):1608-1614. doi: 10.1002/ajmg.a.61590. Epub 2020 Apr 7. Am J Med Genet A. 2020. PMID: 32259399 Review.

6

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.

7

Purpura fulminans in a newborn infant with galactosemia.

Zenciroglu A, Ipek MS, Aydin M, Kara A, Okumus N, Kilic M. Zenciroglu A, et al. Among authors: kilic m. Eur J Pediatr. 2010 Jul;169(7):903-6. doi: 10.1007/s00431-009-1121-y. Epub 2009 Dec 17. Eur J Pediatr. 2010. PMID: 20016915

8

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

9

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

10

MAN1B1-CDG: novel patients and novel variant.

Kasapkara CS, Olgac A, Kilic M, Keldermans L, Matthijs G, Jaeken J. Kasapkara CS, et al. Among authors: kilic m. J Pediatr Endocrinol Metab. 2021 Jun 24;34(9):1207-1209. doi: 10.1515/jpem-2021-0038. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34162022

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