Kurum Yazarı "Cansever, Mehmet Şerif" WoS İndeksli Yayınlar Koleksiyonu İçin Listeleme
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Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria
Özçelik, Sirun; Öztekin, Nevin; Kıykım, Ertuğrul; Cansever, Mehmet Şerif; Aktuğlu Zeybek, Ayse Çiğdem (Wiley-V C H Verlag Gmbh, 2020)Ethylmalonic acid is a metabolic organic acid, and its accumulation in urine is diagnostic of ethylmalonic aciduria. In this study, a simple and fast method employing capillary electrophoresis equipped with capacitively ... -
Erken Dönemde Tanı Alan Bir Fanconi-Bickel Sendromu Olgusu ve SLC2A2 Geninde Yeni Bir Mutasyon
Çelikboya, Ezgi; Cansever, Mehmet Şerif; Zubarioglu, Tanyel; Yeşil, Gozde; Akıncı, Nurver (Galenos Yayincilik, 2019)Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually ... -
Ion chromatographic method for the determination of orotic acid in urine
Destanoglu, Orhan; Zeydanli, Damla; Cansever, Mehmet Şerif; Yılmaz, Gülcin Gumus (Academic Press Inc Elsevier Science, 2018)Excess urinary orotic acid excretion occurs in patients with some inborn errors of metabolic pathways such as pyrimidine synthesis and urea cycle. Thus, rapid diagnosis of orotic aciduria has a vital importance for patients. ... -
A New Mutation in Diagnosis of Wolman Disease: Case Report
Cansever, Mehmet Şerif; Aslan, Mine; Zubarioglu, Tanyal (Aves, 2019)Wolman disease (WD) is caused by the complete loss of lysosomal acid lipase (LAL) activity that is essential for hydrolysis of cholesterol esters and triglycerides. It presents with vomiting, diarrhea, poor weight gain, ...