Topçu M - Search Results

1

Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.

Celtikci B, Topçu M, Ozkara HA. Celtikci B, et al. Among authors: topcu m. Clin Biochem. 2011 Jul;44(10-11):809-12. doi: 10.1016/j.clinbiochem.2011.04.022. Epub 2011 May 4. Clin Biochem. 2011. PMID: 21569769

2

Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.

Ozkara HA, Akerman BR, Ciliv G, Topçu M, Renda Y, Gravel RA. Ozkara HA, et al. Among authors: topcu m. Hum Mutat. 1995;5(2):186-7. doi: 10.1002/humu.1380050216. Hum Mutat. 1995. PMID: 7749419 No abstract available.

3

A study on enzyme activities of some sphingolipidoses.

Ozkara HA, Arikan MC, Topçu M, Emre S, Renda Y. Ozkara HA, et al. Among authors: topcu m. Turk J Pediatr. 1994 Jul-Sep;36(3):215-21. Turk J Pediatr. 1994. PMID: 7974812

4

Sandhoff disease in the Turkish population.

Ozkara HA, Topçu M, Renda Y. Ozkara HA, et al. Among authors: topcu m. Brain Dev. 1997 Nov;19(7):469-72. doi: 10.1016/s0387-7604(97)00061-2. Brain Dev. 1997. PMID: 9408593

5

Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.

Sinici I, Ozkara HA, Topçu M, Ciliv G. Sinici I, et al. Among authors: topcu m. Pediatr Int. 2003 Feb;45(1):16-22. doi: 10.1046/j.1442-200x.2003.01669.x. Pediatr Int. 2003. PMID: 12654063

6

Sphingolipidoses in Turkey.

Ozkara HA, Topçu M. Ozkara HA, et al. Among authors: topcu m. Brain Dev. 2004 Sep;26(6):363-6. doi: 10.1016/j.braindev.2003.09.006. Brain Dev. 2004. PMID: 15275696

7

Identification of 7th hexosaminidase A mutation of Tay-Sachs disease in the Turkish population.

Sinici I, Onder E, Topçu M, Ozkara HA. Sinici I, et al. Among authors: topcu m. Turk J Pediatr. 2007 Jul-Sep;49(3):337-8. Turk J Pediatr. 2007. PMID: 17990595 No abstract available.

8

Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy.

Onder E, Sinici I, Müjgan Sönmez F, Topçu M, Ozkara HA. Onder E, et al. Among authors: topcu m. Neurol Res. 2009 Feb;31(1):60-6. doi: 10.1179/016164108X323762. Epub 2008 Sep 3. Neurol Res. 2009. PMID: 18768108

9

Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.

Celtikçi B, Aydın Hİ, Sivri S, Sönmez M, Topçu M, Ozkara HA. Celtikçi B, et al. Among authors: topcu m. Clin Biochem. 2012 May;45(7-8):571-4. doi: 10.1016/j.clinbiochem.2011.12.019. Epub 2012 Jan 3. Clin Biochem. 2012. PMID: 22234367

10

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience.

Unal C, Ozkara HA, Tanacan A, Fadiloglu E, Lay I, Topçu M, Cakar AN, Beksac MS. Unal C, et al. Among authors: topcu m. Prenat Diagn. 2019 Nov;39(12):1080-1085. doi: 10.1002/pd.5547. Epub 2019 Aug 22. Prenat Diagn. 2019. PMID: 31411753

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