Kor D - Search Results

1

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

Yilmaz BS, Mungan NO, Di Leo E, Magnolo L, Artuso L, Bernardis I, Tumgor G, Kor D, Tarugi P. Yilmaz BS, et al. Among authors: kor d. Clin Chim Acta. 2016 Jan 15;452:185-90. doi: 10.1016/j.cca.2015.11.017. Epub 2015 Nov 22. Clin Chim Acta. 2016. PMID: 26612772

2

Two novel missense mutations in nonketotic hyperglycinemia.

Yilmaz BS, Kor D, Ceylaner S, Mert GG, Incecik F, Kartal E, Mungan NO. Yilmaz BS, et al. Among authors: kor d. J Child Neurol. 2015 May;30(6):789-92. doi: 10.1177/0883073814535499. Epub 2014 May 16. J Child Neurol. 2015. PMID: 24838951

3

An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.

Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M. Kör D, et al. J Pediatr Endocrinol Metab. 2015 May;28(5-6):669-71. doi: 10.1515/jpem-2014-0302. J Pediatr Endocrinol Metab. 2015. PMID: 25381946

4

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

Yilmaz BS, Kor D, Mungan NO, Erdem S, Ceylaner S. Yilmaz BS, et al. Among authors: kor d. J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1179-81. doi: 10.1515/jpem-2014-0528. J Pediatr Endocrinol Metab. 2015. PMID: 26030785

5

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.

Horoz OO, Mungan NO, Yildizdas D, Hergüner Ö, Ceylaner S, Kör D, Waterham H, Coskun T. Horoz OO, et al. Among authors: kor d. J Pediatr Endocrinol Metab. 2016 Feb;29(2):227-31. doi: 10.1515/jpem-2015-0198. J Pediatr Endocrinol Metab. 2016. PMID: 26444347

6

Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation.

Mungan NÖ, Kör D, Büyükkurt S, Atmış A, Güleç Ü, Satar M. Mungan NÖ, et al. Among authors: kor d. J Pediatr Endocrinol Metab. 2016 Jul 1;29(7):863-6. doi: 10.1515/jpem-2015-0451. J Pediatr Endocrinol Metab. 2016. PMID: 27089410

7

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.

Uçar HK, Tümgör G, Kör D, Kardaş F, Mungan NÖ. Uçar HK, et al. Among authors: kor d. Balkan Med J. 2016 May;33(3):370-2. doi: 10.5152/balkanmedj.2016.141074. Epub 2016 May 1. Balkan Med J. 2016. PMID: 27308087 Free PMC article.

8

Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.

Kör D, Yılmaz BŞ, Bulut FD, Ceylaner S, Mungan NÖ. Kör D, et al. J Pediatr Endocrinol Metab. 2017 Jul 26;30(7):713-718. doi: 10.1515/jpem-2016-0461. J Pediatr Endocrinol Metab. 2017. PMID: 28593914 Clinical Trial.

9

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. Among authors: kor d. J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):339-343. doi: 10.1515/jpem-2017-0406. J Pediatr Endocrinol Metab. 2018. PMID: 29353266

10

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. Among authors: kor d. Turk J Pediatr. 2017;59(3):311-314. doi: 10.24953/turkjped.2017.03.012. Turk J Pediatr. 2017. PMID: 29376577 Free article.

Seker-Yilmaz B, Kor D, Tumgor G, Ceylaner S, Onenli-Mungan N. p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency. ...

Seker-Yilmaz B, Kor D, Tumgor G, Ceylaner S, Onenli-Mungan N. p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient w …

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