Zobrazeno 1 - 10
of 13
pro vyhledávání: '"H. A. Özkara"'
Autor:
Saadettin Eskicorapci, H. Asuman Özkara, Gonenc Ciliv, Evren Önder, Bulent Akdogan, Haluk Ozen, Ilhan Erkan
Publikováno v:
Clinical Biochemistry. 39:363-366
To evaluate the diagnostic value of serum ribonuclease activity for prostate cancer detection and to compare its performance with serum PSA.111 subjects with serum PSA levels between 2.5 and 20 ng/mL underwent prostate biopsy. The diagnostic performa
Publikováno v:
Journal of Inherited Metabolic Disease. 27:747-756
GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of beta- N -acetylhexosaminidase (H
Publikováno v:
Pediatric Anesthesia. 13:53-57
Summary Background: We aimed to investigate the effect of propofol infusion anaesthesia on acid–base status and liver and myocardial enzyme levels of children during short-term anaesthesia. Methods: Thirty-six children, aged 3–12 years, were rand
Autor:
Müge Yemişçi, Incilay Sinici, H. Asuman Özkara, Mutlu Hayran, Hakan Ay, Basak Çeltikçi, Evren Önder, Gülseren Büyükşerbetci, E. Baris Kaya, Lale Tokgözoglu, Turgay Dalkara
Publikováno v:
Free radical research. 43(3)
Association of the three potential endothelial nitric oxide synthase gene (eNOS) polymorphisms (T-786C in promoter region, G894T in exon 7 and tandem 27-bp repeats in intron 4) with an increased risk of lacunar infarction (LI) were investigated. Geno
Publikováno v:
Neurological research. 31(1)
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A or saposin B. Enzyme deficiency leads to the accumulation of sulfatide, which results in severe demyelination.In this study, clinically suspected
Autor:
Gonenc Ciliv, Berna B Kıvırcık Akdede, Halil Resmi, Zeliha Tunca, Basak Celtikci, Burak Baykara, Ayşegül Özerdem, Köksal Alptekin, Gül Ergör, Bilge Birsoy, H. Asuman Özkara
Dystonic movements and Parkinsonism are frequently seen in gangliosidoses and these conditions have been reported to modify dopaminergic plasticity. We investigated whether the activity of hexosaminidase, a type-two ganglioside (GM2) degrading enzyme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::035572664ffbf4f3e94364ca368ecb59
https://avesis.deu.edu.tr/publication/details/c7232d50-babc-4e65-8d50-400890adf967/oai
https://avesis.deu.edu.tr/publication/details/c7232d50-babc-4e65-8d50-400890adf967/oai
The ability to use in vitro mutagenesis and transfection techniques to generate stable cell lines that highly express a mutant protein associated with a metabolic disease has been an important technique in linking genotype to clinical phenotype (Ozka
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d014e38b83ad05e973a270be33da4f70
http://hdl.handle.net/11655/16459
http://hdl.handle.net/11655/16459
Autor:
Arife Polat Düzgün, Selda Seckin, Faruk Coşkun, H. Asuman Özkara, M. Tahir Oruc, M. Mahir Ozmen, Deniz Arik, Orhan Kazan
Publikováno v:
Digestive diseases and sciences. 49(10)
Strangulation is associated with an increased risk of mortality and morbidity in patients with mechanical bowel obstruction. The accurate and early recognition of the presence of strangulation is important to allow safe nonoperative treatment. A numb
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 45(1)
Background: Tay-Sachs disease is a form of monosialoganglioside triaose (GM2) gangliosidosis that results from the mutations in the alpha-subunit gene of hexosaminidase A. In the B1 variant, the active site of the alpha-subunit of the enzyme is thoug
Autor:
H. Asuman Özkara, Ruth Navon
Publikováno v:
Molecular genetics and metabolism. 65(3)
Twenty-five Turkish infants with Tay-Sachs disease (TSD) have been diagnosed in the past 8 years. All are from consanguineous, nonrelated families. The present study deals with the molecular basis of six Turkish TSD patients from five unrelated famil