Yazar "Dursun, Ali" için listeleme
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Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations
Dundar, Halil; Ozgul, Riza Koksal; Guzel-Ozanturk, Aysegul; Dursun, Ali; Sivri, Serap; Aliefendioglu, Didem; Tokatli, Aysegul (Academic Press Inc Elsevier Science, 2012)Methylmalonic acidemia is an autosomal recessive metabolic disorder affecting the propionate oxidation pathway in the catabolism of several amino acids, odd-chain fatty acids, and cholesterol. Methylmalonic acidemia is ... -
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings
Aliefendioglu, Didem; Dursun, Ali; Coskun, Turgay; Akcoeren, Zuhal; Wanders, Ronald J. A.; Waterham, Hans R. (Springer, 2007)Here we report a newborn with VLCAD deficiency with a severe neonatal onset type who presented with hypoglycemia, cardiomyopathy, mild hepatomegaly and slight hypoalbuminemia. The patient was also homozygous for a new ... -
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
Ostergaard, Elsebet; Duno, Morten; Moller, Lisbeth Birk; Kalkanoglu-Sivri, H. Serap; Dursun, Ali; Aliefendioglu, Didem; Wibrand, Flemming (Springer-Verlag Berlin, 2013)We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a ... -
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
Ozgul, Riza Koksal; Karaca, Mehmet; Kilic, Mustafa; Kucuk, Ozgul; Yucel-Yilmaz, Didem; Unal, Ozlem; Dursun, Ali (Elsevier, 2014)We aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients ...