Demirkol M - Search Results

1

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Gedikbasi A, Toksoy G, Karaca M, Gulec C, Balci MC, Gunes D, Gunes S, Aslanger AD, Unverengil G, Karaman B, Basaran S, Demirkol M, Gokcay GF, Uyguner ZO. Gedikbasi A, et al. Among authors: demirkol m. Front Genet. 2023 Jun 12;14:1191159. doi: 10.3389/fgene.2023.1191159. eCollection 2023. Front Genet. 2023. PMID: 37377599 Free PMC article.

2

Management of adult patients with phenylketonuria: survey results from 24 countries.

Trefz FK, van Spronsen FJ, MacDonald A, Feillet F, Muntau AC, Belanger-Quintana A, Burlina A, Demirkol M, Giovannini M, Gasteyger C. Trefz FK, et al. Among authors: demirkol m. Eur J Pediatr. 2015 Jan;174(1):119-27. doi: 10.1007/s00431-014-2458-4. Epub 2014 Dec 6. Eur J Pediatr. 2015. PMID: 25480112

3

Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.

Blanton SH, Pandya A, Landa BL, Javaheri R, Xia X, Nance WE, Pomponio RJ, Norrgard KJ, Swango KL, Demirkol M, Gülden H, Coskun T, Tokatli A, Ozalp I, Wolf B. Blanton SH, et al. Among authors: demirkol m. Hum Hered. 2000 Mar-Apr;50(2):102-11. doi: 10.1159/000022897. Hum Hered. 2000. PMID: 10799968

4

Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern.

Sewell AC, Böhles HJ, Herwig J, Demirkol M. Sewell AC, et al. Among authors: demirkol m. Eur J Pediatr. 1995 Jul;154(7):593-4. doi: 10.1007/BF02074851. Eur J Pediatr. 1995. PMID: 7556337 No abstract available.

5

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.

Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I. Kilinç MO, et al. Among authors: demirkol m. J Med Genet. 2000 Apr;37(4):307-9. doi: 10.1136/jmg.37.4.307. J Med Genet. 2000. PMID: 10819640 Free PMC article. No abstract available.

6

The influence of a severe burn injury on the distribution of carnitine between blood cells.

Böhles H, Demirkol M, Sewell AC. Böhles H, et al. Among authors: demirkol m. Burns. 1996 Mar;22(2):166. doi: 10.1016/0305-4179(96)89666-5. Burns. 1996. PMID: 8634132 No abstract available.

7

The variation of carnitine content in human blood cells during disease--a study in bacterial infection and inflammatory bowel disease.

Demirkol M, Sewell AC, Böhles H. Demirkol M, et al. Eur J Pediatr. 1994 Aug;153(8):565-8. doi: 10.1007/BF02190659. Eur J Pediatr. 1994. PMID: 7957402

8

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.

9

Ocular and periorbital anthropometry in the newborn.

Demirkol M, Ertuğrul T, Neyzi O. Demirkol M, et al. Hum Biol. 1988 Feb;60(1):11-21. Hum Biol. 1988. PMID: 3371950 No abstract available.

10

Management of phenylketonuria in Europe: survey results from 19 countries.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Among authors: demirkol m. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826

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