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Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey

dc.contributor.authorEzgu, Fatih S.
dc.contributor.authorEroglu, Fehime Kara
dc.contributor.authorIsiyel, Emel
dc.contributor.authorCaliskan, Salim
dc.contributor.authorEzgu, Sevcan A. Bakkaloglu
dc.contributor.authorAKMAN, SEMA
dc.contributor.authorAkil, Ipek
dc.contributor.authorTABEL, YILMAZ
dc.contributor.authorAKINCI, Nurver
dc.contributor.authorOzdogan, Elif Bahat
dc.contributor.authorOZEL, Ahmet
dc.date.accessioned2021-03-05T18:12:06Z
dc.date.available2021-03-05T18:12:06Z
dc.date.issued2016
dc.identifier.citationIsiyel E., Ezgu S. A. B. , Caliskan S., AKMAN S., Akil I., TABEL Y., AKINCI N., Ozdogan E. B. , OZEL A., Eroglu F. K. , et al., "Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey", MOLECULAR GENETICS AND METABOLISM, cilt.119, ss.311-316, 2016
dc.identifier.issn1096-7192
dc.identifier.othervv_1032021
dc.identifier.otherav_c92fbed0-0490-4969-be31-67a3ee5530d5
dc.identifier.urihttp://hdl.handle.net/20.500.12627/133312
dc.identifier.urihttps://doi.org/10.1016/j.ymgme.2016.10.011
dc.description.abstractPrimary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD).
dc.language.isoeng
dc.subjectTıp
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.titleMolecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey
dc.typeMakale
dc.relation.journalMOLECULAR GENETICS AND METABOLISM
dc.contributor.departmentAkdeniz Üniversitesi , Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume119
dc.identifier.issue4
dc.identifier.startpage311
dc.identifier.endpage316
dc.contributor.firstauthorID13791


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