Gökcay G - Search Results

1

Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

Sander J, Janzen N, Terhardt M, Sander S, Gökcay G, Demirkol M, Ozer I, Peter M, Das AM. Sander J, et al. Among authors: gokcay g. Clin Chim Acta. 2011 Jan 14;412(1-2):134-8. doi: 10.1016/j.cca.2010.09.027. Epub 2010 Sep 29. Clin Chim Acta. 2011. PMID: 20883679

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

3

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

Santer R, Gokçay G, Demirkol M, Gal A, Lukacs Z. Santer R, et al. Among authors: gokcay g. J Inherit Metab Dis. 2005;28(2):137-40. doi: 10.1007/s10545-005-7060-5. J Inherit Metab Dis. 2005. PMID: 15877202

4

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M. Aoyama Y, et al. Among authors: gokcay g. J Hum Genet. 2009 Nov;54(11):681-6. doi: 10.1038/jhg.2009.100. Epub 2009 Oct 16. J Hum Genet. 2009. PMID: 19834502

5

Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.

Aoyama Y, Endo Y, Ebara T, Murase T, Shin YS, Podskarbi T, Ozer I, Demirkol M, Gökçay G, Okubo M. Aoyama Y, et al. Among authors: gokcay g. Pediatr Int. 2010 Feb;52(1):145-7. doi: 10.1111/j.1442-200X.2009.02943.x. Pediatr Int. 2010. PMID: 20158661 No abstract available.

6

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N. Dobrowolski SF, et al. Among authors: gokcay g. Mol Genet Metab. 2011 Feb;102(2):116-21. doi: 10.1016/j.ymgme.2010.11.158. Epub 2010 Nov 18. Mol Genet Metab. 2011. PMID: 21147011

7

Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.

Janzen N, Terhardt M, Sander S, Demirkol M, Gökçay G, Peter M, Lücke T, Sander J, Das AM. Janzen N, et al. Among authors: gokcay g. Clin Chim Acta. 2014 Mar 20;430:28-32. doi: 10.1016/j.cca.2013.12.020. Epub 2013 Dec 25. Clin Chim Acta. 2014. PMID: 24370386

8

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.

Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S. Garbade SF, et al. Among authors: gokcay g. J Inherit Metab Dis. 2014 Sep;37(5):763-73. doi: 10.1007/s10545-014-9676-9. Epub 2014 May 9. J Inherit Metab Dis. 2014. PMID: 24810368

9

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: gokcay g. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.

10

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO. Grünert SC, et al. Among authors: gokcay g. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28583327

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