Demirkol M - Search Results

1

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: demirkol m. J Inherit Metab Dis. 2005;28(2):137-40. doi: 10.1007/s10545-005-7060-5. J Inherit Metab Dis. 2005. PMID: 15877202

2

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.

3

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

4

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

5

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. Among authors: demirkol m. Hum Mutat. 2005 Apr;25(4):413. doi: 10.1002/humu.9329. Hum Mutat. 2005. PMID: 15776412

6

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

7

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: demirkol m. J Inherit Metab Dis. 2005;28(6):903-12. doi: 10.1007/s10545-005-0161-3. J Inherit Metab Dis. 2005. PMID: 16435182

8

Breast feeding in organic acidaemias.

Gokcay G, Baykal T, Gokdemir Y, Demirkol M. Gokcay G, et al. Among authors: demirkol m. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):304-10. doi: 10.1007/s10545-005-0255-y. J Inherit Metab Dis. 2006. PMID: 16763892

9

Molecular genetics of maple syrup urine disease in the Turkish population.

Gorzelany K, Dursun A, Coşkun T, Kalkanoğlu-Sivri SH, Gökçay GF, Demirkol M, Feyen O, Wendel U. Gorzelany K, et al. Among authors: demirkol m. Turk J Pediatr. 2009 Mar-Apr;51(2):97-102. Turk J Pediatr. 2009. PMID: 19480318

10

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: demirkol m. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

177 results

Search Page

Filters