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Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

dc.contributor.authorKatipoglu, Nagehan
dc.contributor.authorKarapinar, Tuba H.
dc.contributor.authorDemir, Korcan
dc.contributor.authorKoker, Sultan Aydin
dc.contributor.authorNalbantoglu, Ozlem
dc.contributor.authorAy, Yilmaz
dc.contributor.authorKorkmaz, Huseyin A.
dc.contributor.authorOzkan, Behzat
dc.contributor.authorVergin, Canan
dc.contributor.authorHazan, Filiz
dc.contributor.authorTunc, Selma
dc.contributor.authorYildiz, Melek
dc.contributor.authorOymak, Yesim
dc.date.accessioned2021-03-05T15:09:45Z
dc.date.available2021-03-05T15:09:45Z
dc.date.issued2017
dc.identifier.citationKatipoglu N., Karapinar T. H. , Demir K., Koker S. A. , Nalbantoglu O., Ay Y., Korkmaz H. A. , Oymak Y., Yildiz M., Tunc S., et al., "Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report", ARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.115, 2017
dc.identifier.issn0325-0075
dc.identifier.otherav_ba8c9900-d2ee-42c4-816c-6001cc0b177e
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/124076
dc.identifier.urihttps://doi.org/10.5546/aap.2017.eng.e153
dc.description.abstractBackground. Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.
dc.language.isoeng
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.titleInfantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report
dc.typeMakale
dc.relation.journalARCHIVOS ARGENTINOS DE PEDIATRIA
dc.contributor.departmentIzmir Dr Behcet Uz Children''s Disease & Surgery Training & Research Hospital , ,
dc.identifier.volume115
dc.identifier.issue3
dc.contributor.firstauthorID2273963


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