Výsledky vyhledávání - "Tanyel, Zübarioğlu"

Akademický článek

İdrarda Orotik Asit’in Temassız İletkenlik Dedektörü Kullanılarak Kapiler Elektroforez Yöntemi İle Hızlı Tayini

Autor: Mehmet Şerif Cansever, Veselina Adımcılar, Ayşe Aktuğlu, Ertuğrul Kıykım, Tanyel Zübarioğlu, Nevin Öztekin

Publikováno v: Süleyman Demirel Üniversitesi Fen-Edebiyat Fakültesi Fen Dergisi, Vol 15, Iss 2, Pp 194-202 (2020)

İdrarda orotik asidin aşırı atılımı üre döngüsü bozukluğu ve pirimidin sentez bozukluğu gibi doğumsal metabolik hastalıklarda görülür. Bu nedenle orotik asidin hızlı bir şekilde tayini hayati öneme sahiptir. Bu çalışmada idra

Externí odkaz: https://doaj.org/article/ce3b45870da14224a1fe6af32c95bfe1

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Akademický článek

Rapid Determination Of L-2-Hydoxyglutaric Acid in Urine Samples By Capillary Electrophoresis With Indirect Uv Detection

Autor: Mehmet Şerif CANSEVER, Zeynep KALAYCIOĞLU, Tanyel ZÜBARİOĞLU, Ertuğrul KIYKIM, Ayşe Çiğdem AKTUĞLU ZEYBEK, Fatma Bedia ERİM

Publikováno v: Namık Kemal Tıp Dergisi, Vol 8, Iss 2, Pp 264-270 (2020)

Aim:L-2-hydroxyglutaric aciduria (L2HGA) which is autosomal recessive and characterized by psychomotor retardation, cerebellar ataxia, variable macrocephaly, and epilepsy is a rarely seen neurometabolic disease. The disease is biochemically identifie

Externí odkaz: https://doaj.org/article/c78fee3bec314140a965fb1edd6c0d1d

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Akademický článek

Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene

Autor: Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı

Publikováno v: Haseki Tıp Bülteni, Vol 57, Iss 3, Pp 328-331 (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 diagnosed at 6-10 months of

Externí odkaz: https://doaj.org/article/4d3c0b425fb84c63977747a13172a812

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Evaluation of plasma carnitine status in patients diagnosed with juvenile idiopathic arthritis

Autor: Ayşe Çiğdem, Aktuğlu Zeybek, Ertuğrul, Kıykım, Kenan, Barut, Tanyel, Zübarioğlu, Mehmet Şerif, Cansever, Özgür, Kasapçopur

Publikováno v: Turkish Journal of Medical Sciences. 52:724-729

Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood and manifests mainly as autoinflammation of the joints and other tissues. Several treatment options such as nonsteroidal antiinflammatory drugs, methotrexate, and i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5052bedce6cd830dc6a8e9b59d145a38
https://doi.org/10.55730/1300-0144.5366

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An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies

Autor: Tanyel, Zübarioğlu, Ertuğrul, Kıykım, Çiğdem, Aktuğlu-Zeybek

Publikováno v: Turkish archives of pediatrics. 58(1)

Porphyrias are inborn errors of heme biosynthesis pathway that result in neurovisceral and/ or cutaneous manifestations which occur with episodic attacks, usually accompanied by a multisystemic involvement. Acute hepatic porphyrias include acute inte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5f69b983131f26a87481bf2be94108ea
https://pubmed.ncbi.nlm.nih.gov/36598205

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Rapid Determination Of Orotic Acid Level in Urine By Capillary Electrophoresis Coupled with Contactless Conductivity Detection

Autor: Veselina Adımcılar, Nevin Öztekin, Tanyel Zübarioğlu, Ertugrul Kiykim, Ayşe Aktuğlu, Mehmet Serif Cansever

Publikováno v: Süleyman Demirel Üniversitesi Fen-Edebiyat Fakültesi Fen Dergisi, Vol 15, Iss 2, Pp 194-202 (2020)
Volume: 15, Issue: 2 194-202
Süleyman Demirel Üniversitesi Fen Edebiyat Fakültesi Fen Dergisi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622c093ffdebc4e19e468458a37507a7
https://dergipark.org.tr/tr/pub/sdufeffd/issue/57875/695869

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Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus

Autor: Ertugrul Kiykim, Ayşe Çiğdem Aktuğlu Zeybek, Tanyel Zübarioğlu, Mehmet Serif Cansever, Sezgin Sahin, Amra Adrovic, Kenan Barut, Ozgur Kasapcopur

Publikováno v: Arch Rheumatol

Objectives This study aims to determine the prevalence of Fabry disease (FD) among patients with juvenile systemic lupus erythematosus (SLE). Patients and methods This cross-sectional study included 76 juvenile SLE patients (12 males; 64 females; mea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b93134f1671dc9dcccd1fdf10fcdc0c0
https://europepmc.org/articles/PMC7322306/

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L-2-hidroksiglutarik asidüri hastalarında klinik, nöroradyolojik ve genetik bulguların değerlendirilmesi

Autor: Ayşe Çiğdem Aktuğlu Zeybek, Gozde Yesil, Tanyel Zübarioğlu, Cengiz Yalcinkaya, Ertugrul Kiykim, Ece Oge Enver, Alper Gezdirici, Cigdem Oruc, Mehmet Serif Cansever

Publikováno v: Türk Pediatri Arşivi.

Aim L-2-hydroxyglutaric aciduria is a slowly progressive neurometabolic disorder caused by an enzymatic deficiency of L-2-hydroxyglutarate dehydrogenase. Here, we aimed to evaluate the clinical, neuroradiologic, and genotypic characteristics of patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::08ebe10b77f6940ba333ea48b47f30fe
https://doi.org/10.14744/turkpediatriars.2019.06926

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