Demirkol M - Search Results

1

Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.

Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B. Uyguner O, et al. Among authors: demirkol m. J Inherit Metab Dis. 2003;26(1):17-23. doi: 10.1023/a:1024063126954. J Inherit Metab Dis. 2003. PMID: 12872836 Clinical Trial.

2

Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.

Hüner G, Podskarbi T, Schütz M, Baykal T, Sarbat G, Shin YS, Demirkol M. Hüner G, et al. Among authors: demirkol m. J Inherit Metab Dis. 1998 Jun;21(4):445-6. doi: 10.1023/a:1005339616074. J Inherit Metab Dis. 1998. PMID: 9700612 No abstract available.

3

Incidence of biotinidase deficiency in Turkish newborns.

Baykal T, Hüner G, Sarbat G, Demirkol M. Baykal T, et al. Among authors: demirkol m. Acta Paediatr. 1998 Oct;87(10):1102-3. doi: 10.1080/080352598750031518. Acta Paediatr. 1998. PMID: 9825985 No abstract available.

4

Novel mutations cause biotinidase deficiency in Turkish children.

Pomponio RJ, Coskun T, Demirkol M, Tokatli A, Ozalp I, Hüner G, Baykal T, Wolf B. Pomponio RJ, et al. Among authors: demirkol m. J Inherit Metab Dis. 2000 Mar;23(2):120-8. doi: 10.1023/a:1005609614443. J Inherit Metab Dis. 2000. PMID: 10801053 Clinical Trial.

5

Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).

Romstad A, Kalkanoğlu HS, Coşkun T, Demirkol M, Tokatli A, Dursun A, Baykal T, Ozalp I, Guldberg P, Güttler F. Romstad A, et al. Among authors: demirkol m. Hum Genet. 2000 Dec;107(6):546-53. doi: 10.1007/s004390000407. Hum Genet. 2000. PMID: 11153907

6

Maple syrup urine disease: mutation analysis in Turkish patients.

Dursun A, Henneke M, Ozgül K, Gartner J, Coşkun T, Tokatli A, Kalkanoğlu HS, Demirkol M, Wendel U, Ozalp I. Dursun A, et al. Among authors: demirkol m. J Inherit Metab Dis. 2002 May;25(2):89-97. doi: 10.1023/a:1015668425004. J Inherit Metab Dis. 2002. PMID: 12118532

7

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.

Kilinç MO, Ninis VN, Dağli E, Demirkol M, Ozkinay F, Arikan Z, Coğulu O, Hüner G, Karakoç F, Tolun A. Kilinç MO, et al. Among authors: demirkol m. Am J Med Genet. 2002 Dec 1;113(3):250-7. doi: 10.1002/ajmg.10721. Am J Med Genet. 2002. PMID: 12439892

8

Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.

Spiekerkoetter U, Huener G, Baykal T, Demirkol M, Duran M, Wanders R, Nezu J, Mayatepek E. Spiekerkoetter U, et al. Among authors: demirkol m. J Inherit Metab Dis. 2003;26(6):613-5. doi: 10.1023/a:1025968502527. J Inherit Metab Dis. 2003. PMID: 14605509

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: demirkol m. 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

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: demirkol m. J Inherit Metab Dis. 2005;28(2):229-33. doi: 10.1007/s10545-005-4559-8. J Inherit Metab Dis. 2005. PMID: 15877210

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