Yazar "Ozgul, Riza Koksal" 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 ... -
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 ...