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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
Autor:
Esra Karabağ Yılmaz, Seha Saygili, Bora Gulhan, Nur Canpolat, Aysun Karabay Bayazıt, Beltinge Demircioglu Kilic, Nurver Akıncı, Meryem Benzer, Nilufer Goknar, Asli Kavaz Tufan, Mukaddes Kalyoncu, Hulya Nalcacioglu, Demet Tekcan, Gizem Yıldız, Ayse Agbas, Ahmet Nayır, Rezan Topaloglu, Salim Caliskan, Fatih Ozaltin
The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c75c931e9aba31257d78b3349442215
https://avesis.deu.edu.tr/publication/details/87bf3035-b774-44e9-9801-4a56fbd067ea/oai
https://avesis.deu.edu.tr/publication/details/87bf3035-b774-44e9-9801-4a56fbd067ea/oai
Publikováno v:
Medical Bulletin of Haseki. 57:328-331
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7b5070e37769ed8bdfdd416264c715d
https://doi.org/10.4274/haseki.galenos.2018.4504
https://doi.org/10.4274/haseki.galenos.2018.4504
Autor:
Cemile Pehlivanoğlu, Zeynep Yürük Yıldırım, Alev Yılmaz, Asuman Gedikbaşı, Nurinisa Karagöz, Nurver Akıncı, Aysel Kıyak, Gül Özçelik, Yasemin Özlük, Işın Kılıçaslan, Ayşe Özağarı, Bağdagül Yavaş Aksu, Sevinç Emre
Publikováno v:
Volume: 84, Issue: 4 568-573
Journal of Istanbul Faculty of Medicine
Journal of Istanbul Faculty of Medicine
Objective: The evidences from experimental and epidemiological studies suggests that elevated serum homocysteine levels may lead to renal injury and may be a significant risk factor for the development of chronic kidney disease. The aim of this study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de55006e52b4395b2660c15fe45a1087
https://dergipark.org.tr/tr/pub/iuitfd/issue/64658/847530
https://dergipark.org.tr/tr/pub/iuitfd/issue/64658/847530
Autor:
Güzide, Doğan, Nurver, Akıncı, Rasul, Sharifov, Fatma Betül, Çakır, Hakan, Şentürk, Hacı Mehmet, Türk
Publikováno v:
Pediatric nephrology (Berlin, Germany). 36(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd68cc749dddfad7b292dc2d326d3296
https://pubmed.ncbi.nlm.nih.gov/33427981
https://pubmed.ncbi.nlm.nih.gov/33427981
Autor:
Güzide Doğan, Nurver Akıncı, Rasul Sharifov, Fatma Betül Çakır, Hakan Şentürk, Hacı Mehmet Türk
Publikováno v:
Pediatric Nephrology. 36:1995-1996
A 17-year-old male patient presented to the emergency room due to fatigue, severe right flank pain, and rectal bleeding that happened 3 months ago as well, and elevated serum creatinine (1.4 mg/dl), bilateral hydroureteronephrosis, and bilateral echo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2cc0b059ca0d04dec24d3a34ec0d14a
https://doi.org/10.1007/s00467-020-04850-7
https://doi.org/10.1007/s00467-020-04850-7
Publikováno v:
Türk Üroloji Dergisi/Turkish Journal of Urology. 39:274-276
Xanthine dehydrogenase catalyzes the oxidation of hypoxanthine to xanthine and xanthine to uric acid in the final two steps of the purine degradation process. Xanthine oxidase deficiency is an uncommon cause of pediatric urinary stone formation, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3495d8cfa19a6872008b1d5a06ea029a
https://doi.org/10.5152/tud.2013.066
https://doi.org/10.5152/tud.2013.066
Autor:
Zelal, Ekinci, Cengiz, Candan, Harika, Alpay, Nur, Canpolat, Sare Gülfem, Akyüz, Zübeyde, Gündüz, Ismail, Dursun, Kenan, Bek, Hasan, Dursun, Emel, Işıyel, Faruk, Öktem, Yılmaz, Tabel, İpek, Akil, Ali, Delibaş, Kaan, Gülleroğlu, Nurver, Akıncı, Nida, Dinçel, Ozan, Özkaya, Oğuz, Söylemezoğlu
Publikováno v:
The Turkish journal of pediatrics. 55(3)
The aim of this retrospective multicenter study was to define the epidemiological and clinical features and prognostic factors of the first diarrhea-related hemolytic uremic syndrome (D+HUS) outbreak in Turkey in 2011. All pediatric nephrology center
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5be7207fe00541d889becbe857af5a55
https://pubmed.ncbi.nlm.nih.gov/24577994
https://pubmed.ncbi.nlm.nih.gov/24577994
Autor:
Yılmaz, Esra Karabağ1, Saygili, Seha1, Gulhan, Bora2, Canpolat, Nur1, Bayazıt, Aysun Karabay3, Kilic, Beltinge Demircioglu4, Akıncı, Nurver5, Benzer, Meryem6, Goknar, Nilufer7, Tufan, Asli Kavaz8, Kalyoncu, Mukaddes9, Nalcacioglu, Hulya10, Tekcan, Demet10, Yıldız, Gizem11, Agbas, Ayse1, Nayır, Ahmet12, Topaloglu, Rezan2, Caliskan, Salim1, Ozaltin, Fatih2,13 fozaltin@hacettepe.edu.tr
Publikováno v:
Pediatric Nephrology. Aug2022, Vol. 37 Issue 8, p1855-1866. 12p. 1 Diagram, 5 Charts, 1 Graph.