Hasanoğlu A - Search Results

1

SRD5A3-CDG: a patient with a novel mutation.

Kasapkara CS, Tümer L, Ezgü FS, Hasanoğlu A, Race V, Matthijs G, Jaeken J. Kasapkara CS, et al. Among authors: hasanoglu a. Eur J Paediatr Neurol. 2012 Sep;16(5):554-6. doi: 10.1016/j.ejpn.2011.12.011. Epub 2012 Jan 10. Eur J Paediatr Neurol. 2012. PMID: 22240719

2

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

Ezgu F, Çiftci B, Topçu B, Adıyaman G, Gökmenoğlu H, Küçükçongar A, Kasapkara Ç, Biberoğlu G, Tümer L, Hasanoğlu A. Ezgu F, et al. Among authors: hasanoglu a. Metab Brain Dis. 2014 Mar;29(1):211-3. doi: 10.1007/s11011-014-9482-y. Epub 2014 Jan 11. Metab Brain Dis. 2014. PMID: 24407464

3

BCS1L gene mutation causing GRACILE syndrome: case report.

Kasapkara ÇS, Tümer L, Ezgü FS, Küçükçongar A, Hasanoğlu A. Kasapkara ÇS, et al. Among authors: hasanoglu a. Ren Fail. 2014 Jul;36(6):953-4. doi: 10.3109/0886022X.2014.900422. Epub 2014 Mar 24. Ren Fail. 2014. PMID: 24655110 Free article.

4

A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.

Kasapkara CS, Tumer L, Okur I, Hasanoglu A. Kasapkara CS, et al. Among authors: hasanoglu a. Genet Couns. 2011;22(2):187-92. Genet Couns. 2011. PMID: 21848011

5

Vertebra and femur neck bone mineral density values in healthy Turkish children.

Hasanoğlu A, Tümer L, Ezgü FS. Hasanoğlu A, et al. Turk J Pediatr. 2004 Oct-Dec;46(4):298-302. Turk J Pediatr. 2004. PMID: 15641261

6

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ. Hasanoglu A, et al. J Inherit Metab Dis. 2011 Feb;34(1):225-31. doi: 10.1007/s10545-010-9237-9. Epub 2010 Nov 20. J Inherit Metab Dis. 2011. PMID: 21103937 Free PMC article.

7

N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia.

Kasapkara CS, Ezgu FS, Okur I, Tumer L, Biberoglu G, Hasanoglu A. Kasapkara CS, et al. Among authors: hasanoglu a. Eur J Pediatr. 2011 Jun;170(6):799-801. doi: 10.1007/s00431-010-1362-9. Epub 2011 Jan 5. Eur J Pediatr. 2011. PMID: 21207059

8

Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.

Eminoglu TF, Tumer L, Okur I, Ezgu FS, Biberoglu G, Hasanoglu A. Eminoglu TF, et al. Among authors: hasanoglu a. Forensic Sci Int. 2011 Jul 15;210(1-3):e1-3. doi: 10.1016/j.forsciint.2011.04.003. Epub 2011 Apr 30. Forensic Sci Int. 2011. PMID: 21531094

9

Hypercalcemia in glycogen storage disease type I patients of Turkish origin.

Kasapkara CS, Tümer L, Okur I, Eminoğlu T, Ezgü FS, Hasanoğlu A. Kasapkara CS, et al. Among authors: hasanoglu a. Turk J Pediatr. 2012 Jan-Feb;54(1):35-7. Turk J Pediatr. 2012. PMID: 22397040

10

Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.

Eminoglu TF, Ezgu FS, Hasanoglu A, Tumer L. Eminoglu TF, et al. Among authors: hasanoglu a. Gene. 2013 Apr 15;518(2):346-50. doi: 10.1016/j.gene.2012.12.104. Epub 2013 Jan 23. Gene. 2013. PMID: 23352793

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