Search Results - "Cansever, Serif"

Altered immune response in organic acidemia by Altun, Ilayda, Kiykim, Ayca, Zubarioglu, Tanyel, Burtecene, Nihan, Hopurcuoglu, Duhan, Topcu, Birol, Cansever, Mehmet Serif, Kiykim, Ertugrul, Cokugras, Haluk Cezmi, Aktuglu Zeybek, Ayse Cigdem

“…Background Most patients with organic acidemia suffer from recurrent infections. Although neutropenia has been reported in multiple studies, other components…”
Get full text

Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome by Zubarioglu, Tanyel, Hopurcuoglu, Duhan, Ahmadzada, Saffa, Uzunyayla‐Inci, Gözde, Cansever, Mehmet Serif, Kiykim, Ertugrul, Aktuglu‐Zeybek, Cigdem

“…Background Infectious diseases can result in a catabolic state and possibly trigger an acute metabolic decompensation in inborn errors of metabolism (IEM),…”
Get full text

A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency by Uygur, Esma, Aktuglu-Zeybek, Cigdem, Aghalarov, Mirsaid, Cansever, Mehmet Serif, Kıykım, Ertugrul, Zubarioglu, Tanyel

“…The main treatment for pyridoxine-nonresponsive cystathionine-β-synthase deficiency is a strict diet. Most centers prescribe low-protein diets based on…”
Get full text

Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience by Aktuglu Zeybek, A Cigdem, Kiykim, Ertugrul, Soyucen, Erdogan, Cansever, Serif, Altay, Suheyla, Zubarioglu, Tanyel, Erkan, Tulay, Aydin, Ahmet

“…Background Hereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite…”
Get full text

Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey by Karaca Sahin, Merve, Aktuglu Zeybek, Ayse Cigdem, Zubarioglu, Tanyel, Cansever, Mehmet Serif, Kıykım, Ertugrul

“…Phenylketonuria is an inherited metabolic disorder that leads to neurobehavioral dysfunction. The main treatment is a low-phenylalanine diet and/or the…”
Get full text

Determination of NTBC in serum samples from patients with hereditary tyrosinemia type I by capillary electrophoresis by Cansever, M. Şerif, Aktuğlu-Zeybek, A. Çiğdem, Erim, F. Bedia

“…Hereditary tyrosinemia type I is a serious metabolic disorder leading to liver failure. 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) is a…”
Get full text

Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey by Zubarioglu, Tanyel, Kiykim, Ertugrul, Yesil, Gozde, Demircioglu, Duhan, Cansever, Mehmet Serif, Yalcinkaya, Cengiz, Aktuglu-Zeybek, Cigdem

“…Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs…”
Get full text

Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis by Cansever, Mehmet Serif, Zubarioglu, Tanyel, Oruc, Cigdem, Kiykim, Ertugrul, Gezdirici, Alper, Neselioglu, Salim, Erel, Ozcan, Yalcinkaya, Cengiz, Aktuglu-Zeybek, Cigdem

“…L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive disorder that is caused by deficiency of 2-hydroxyglutarate dehydrogenase. Pathophysiology of…”
Get full text

Highly sensitive rapid determination of orotic acid in urine samples using a field-amplified sample stacking approach in capillary electrophoresis coupled with contactless conductivity detection by Adımcılar, Veselina, Saygılı, Merve Taşer, Cansever, Mehmet Şerif, Öztekin, Nevin

“…Orotic aciduria is a severe, hereditary, life-threatening condition, particularly in newborns. An increased orotic acid (OA) content in urine may be a strong…”
Get full text

Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias by Kiykim, Ertugrul, Oguz, Ozge, Duman, Cisem, Zubarioglu, Tanyel, Cansever, Mehmet Serif, Zeybek, Ayse Cigdem Aktuglu

“…Classic organic acidurias (OAs) usually characterized by recurrent episodes of acidemia, ketonuria, and hyperammonemia leading to coma and even death if left…”
Get full text

Determination of Ethylmalonic Acid in Human Urine by Ion Chromatography with Suppressed Conductivity by Destanoglu, Orhan, Cansever, Mehmet Serif, Yilmaz, Gulcin Gumus

“…We present here a new method for the determination of EMA in urine by ion chromatography (IC) with suppressed conductivity detection. The separations on an…”
Get full text

Ion chromatographic method for the determination of orotic acid in urine by Destanoğlu, Orhan, Zeydanlı, Damla, Cansever, Mehmet Şerif, Yılmaz, Gülçin Gümüş

“…Excess urinary orotic acid excretion occurs in patients with some inborn errors of metabolic pathways such as pyrimidine synthesis and urea cycle. Thus, rapid…”
Get full text

Pteridine and tryptophan pathways in children with type 1 diabetes: Isoxanthopterin as an indicator of endothelial dysfunction by Özer, Yavuz, Cansever, Mehmet Şerif, Turan, Hande, Bayramoğlu, Elvan, Bingöl Aydın, Dilek, İşat, Esra, Ceyhun, Emre, Zubarioğlu, Tanyel, Aktuğlu Zeybek, Ayşe Çiğdem, Kıykım, Ertuğrul, Evliyaoğlu, Olcay

“…Type 1 diabetes (T1D) and its complications are known to be associated with oxidative stress. Pteridine derivatives and indoleamine 2,3-dioxygenase (IDO)…”
Get full text

Hereditary Tyrosinemia Type 1 in Turkey by Aktuglu-Zeybek, Ayse Cigdem, Kiykim, Ertugrul, Cansever, M Serif

“…Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to…”
Get more information

Separation and quantification of the urinary enantiomers of 2‐hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D‐ and L‐2‐hydroxyglutaric aciduria by Cansever, M. Şerif, Öztekin, Nevin, Kıykım, Ertuğrul, Zübarioğlu, Tanyel, Aktuğlu Zeybek, Ayşe Çiğdem

“…2‐hydroxyglutaric aciduria is an inherited neurometabolic disorder with two major types: D‐2‐hydroxyglutaric aciduria and L‐2‐hydroxyglutaric aciduria. An easy…”
Get full text

Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria by Özçelik, Sirun, Öztekin, Nevin, Kıykım, Ertuğrul, Cansever, Mehmet Şerif, Aktuğlu‐Zeybek, Ayşe Çiğdem

“…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…”
Get full text

Analysis of Biotinidase Activity in Serum by Digital Imaging Colorimetry Detection by Destanoğlu, Orhan, Cansever, M. Şerif, İşat, Esra, Zübarioğlu, Tanyel, Aktuğlu Zeybek, A. Çiğdem, Kıykım, Ertuğrul

“…Biotinidase deficiency (BD) is an autosomal recessive inherited disorder of biotin recycling that leads to neurological and cutaneous consequences if left…”
Get full text

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening by Tin, Oğuzhan, Zübarioğlu, Tanyel, Cansever, Mehmet Şerif, Kıykım, Ertuğrul, Aktuğlu-Zeybek, Çiğdem

“…Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn…”
Get full text

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation by Zubarioglu, Tanyel, Kiykim, Ertugrul, Zeybek, Cigdem Aktuglu, Cansever, Mehmet Serif, Benbir, Gulcin, Aydin, Ahmet, Yalcinkaya, Cengiz

“…Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis…”
Get full text

Determination of urinary succinylacetone by capillary electrophoresis for the diagnosis of tyrosinemia type I by Cansever, M Serif, Erim, F Bedia

“…The presence of succinylacetone in urine or blood or amniotic fluid is pathognomonic of an inherited metabolic disorder, named tyrosinemia type I. We developed…”
Get full text