Familial alpha 1 antitrypsin deficiency cases that are diagnosed in adulthood

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dc.authoridCagin, Yasir Furkan/0000-0002-2538-857X
dc.authoriderdogan, mehmet ali/0000-0002-1713-5695
dc.authorwosidCagin, Yasir Furkan/ABI-2709-2020
dc.authorwosiderdogan, mehmet ali/ABI-4675-2020
dc.contributor.authorAtayan, Yahya
dc.contributor.authorCagin, Yasir Furkan
dc.contributor.authorErdogan, Mehmet Ali
dc.contributor.authorBestas, Remzi
dc.contributor.authorAladag, Murat
dc.date.accessioned2024-08-04T20:41:30Z
dc.date.available2024-08-04T20:41:30Z
dc.date.issued2016
dc.departmentİnönü Üniversitesien_US
dc.description.abstractAlpha 1 antitrypsin (AAT) deficiency is a hereditary disorder leading to severe lung and liver diseases worldwide. An accumulation of insoluble heterodimer AAT molecules in hepatocytes is the main cause of liver disorders. The most commonly detected allele worldwide is the PIMM allele, which fulfills the AAT function. The most common missing variant is PiZZ. Serum AAT level is a beneficial but not a reliable determinant for diagnosis. Liver biopsy yields more reliable results. AAT deficiency has no specific treatment. The only treatment modality in children with end stage liver disease is the hepatic transplant. We wanted to present in our article four cases from same family, diagnosed alpha-1 antitrypsindeficiency in adulthood.en_US
dc.identifier.endpage57en_US
dc.identifier.issn0001-5644
dc.identifier.issue1en_US
dc.identifier.pmid26852765en_US
dc.identifier.scopus2-s2.0-84957991085en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage54en_US
dc.identifier.urihttps://hdl.handle.net/11616/97169
dc.identifier.volume79en_US
dc.identifier.wosWOS:000373453800010en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherUniv Catholique Louvain-Uclen_US
dc.relation.ispartofActa Gastro-Enterologica Belgicaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAlpha 1 antitrypsin (AAT) deficiencyen_US
dc.subjectliver transplantationen_US
dc.subjectGenetic Testingen_US
dc.titleFamilial alpha 1 antitrypsin deficiency cases that are diagnosed in adulthooden_US
dc.typeArticleen_US

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