Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/8165
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dc.contributor.authorArdıçoğlu Akışın, N. Yasemin-
dc.contributor.authorArslan, Zafer-
dc.contributor.authorCeylaner, Serdar-
dc.contributor.authorAkar, Nejat-
dc.date.accessioned2022-01-15T12:58:50Z-
dc.date.available2022-01-15T12:58:50Z-
dc.date.issued2021-
dc.identifier.issn0250-4685-
dc.identifier.issn1303-829X-
dc.identifier.urihttps://doi.org/10.1515/tjb-2021-0088-
dc.identifier.urihttps://hdl.handle.net/20.500.11851/8165-
dc.description.abstractObjectives Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation. Case presentation G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A(p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.en_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofTurkish Journal of Biochemistry-Turk Biyokimya Dergisien_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectfavismen_US
dc.subjectfemaleen_US
dc.subjectglucose-6-phosphate dehydrogenase deficiencyen_US
dc.subjecthemolytic anemiaen_US
dc.subjectIraqi populationen_US
dc.titleGlucose-6 Dehydrogenase Gene Ala365thr Mutation in an Iraqi Family With Confusing Clinical Differencesen_US
dc.typeArticleen_US
dc.departmentFaculties, School of Medicine, Department of Basic Medical Sciencesen_US
dc.departmentFaculties, School of Medicine, Department of Internal Medical Sciencesen_US
dc.departmentFakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümütr_TR
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümütr_TR
dc.identifier.volume46en_US
dc.identifier.issue6en_US
dc.identifier.startpage729en_US
dc.identifier.endpage731en_US
dc.authoridakar, nejat / 0000-0001-8228-8885-
dc.identifier.wosWOS:000734474600001en_US
dc.institutionauthorArdıçoğlu Akışın, Nazife Yasemin-
dc.institutionauthorAkar, Mehmet Nejat-
dc.institutionauthorArslan, Zafer-
dc.identifier.doi10.1515/tjb-2021-0088-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.scopusqualityQ4-
item.openairetypeArticle-
item.languageiso639-1en-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.dept03.14. Department of Internal Medicine-
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
Temel Tıp Bilimleri Bölümü / Department of Basic Medical Sciences
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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