Gokcay G - Search Results

1

Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers.

Sezgin M, Kicik A, Bilgic B, Kurt E, Bayram A, Hanagası H, Tepgec F, Toksoy G, Gurvit H, Uyguner O, Gokcay G, Demiralp T, Emre M. Sezgin M, et al. Among authors: gokcay g. J Parkinsons Dis. 2021;11(2):559-568. doi: 10.3233/JPD-202295. J Parkinsons Dis. 2021. PMID: 33492243

2

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.

Yuruk Yildirim Z, Toksoy G, Uyguner O, Nayir A, Yavuz S, Altunoglu U, Turkkan ON, Sevinc B, Gokcay G, Kurkcu Gunes D, Kiyak A, Yilmaz A. Yuruk Yildirim Z, et al. Among authors: gokcay g. Eur J Med Genet. 2020 Jan;63(1):103621. doi: 10.1016/j.ejmg.2019.01.011. Epub 2019 Jan 22. Eur J Med Genet. 2020. PMID: 30682496

3

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Kalay I, Gulec C, Balcı MC, Toksoy G, Gokcay G, Basaran S, Demirkol M, Uyguner ZO. Kalay I, et al. Among authors: gokcay g. Ann Hum Genet. 2023 Nov;87(6):285-294. doi: 10.1111/ahg.12523. Epub 2023 Aug 11. Ann Hum Genet. 2023. PMID: 37563963

4

Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

Baykal T, Gokcay G, Gokdemir Y, Demir F, Seckin Y, Demirkol M, Jensen K, Wolf B. Baykal T, et al. Among authors: gokcay g. J Inherit Metab Dis. 2005;28(6):903-12. doi: 10.1007/s10545-005-0161-3. J Inherit Metab Dis. 2005. PMID: 16435182

5

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.

Baykal T, Gokcay GH, Ince Z, Dantas MF, Fowler B, Baumgartner MR, Demir F, Can G, Demirkol M. Baykal T, et al. Among authors: gokcay gh. J Inherit Metab Dis. 2005;28(2):229-33. doi: 10.1007/s10545-005-4559-8. J Inherit Metab Dis. 2005. PMID: 15877210

6

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. Among authors: gokcay g. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.

7

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A. Kara B, et al. Among authors: gokcay g. BMC Med Genet. 2014 Jan 16;15:10. doi: 10.1186/1471-2350-15-10. BMC Med Genet. 2014. PMID: 24433453 Free PMC article.

8

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO. Grünert SC, et al. Among authors: gokcay g. Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27. Mol Genet Metab. 2017. PMID: 28689740

9

Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.

Baykal T, Karaaslan I, Gokcay G, Demir F, Laleli Y, Demirkol M. Baykal T, et al. Among authors: gokcay g. J Inherit Metab Dis. 2004;27(6):781-2. doi: 10.1023/b:boli.0000045839.08631.9d. J Inherit Metab Dis. 2004. PMID: 15617190

10

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE. Wolf B, et al. Hum Mutat. 2005 Apr;25(4):413. doi: 10.1002/humu.9329. Hum Mutat. 2005. PMID: 15776412

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