Yazar "Kilic, Mustafa" için listeleme
-
First manifestation of citrullinemia type I as Sandifer syndrome
Kilic, Mustafa; Altinel-Acoglu, Esma; Zorlu, Pelin; Yuksel, Deniz; Bulbul, Selda; Haeberle, Johannes (Turkish J Pediatrics, 2017)We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite ... -
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 ...