Show simple item record

dc.contributor.authorOkulu, Emel
dc.contributor.otherArsan, Saadet
dc.contributor.otherAtasay, Begüm
dc.contributor.otherErdeve, Ömer
dc.contributor.otherEminoğlu, Fatma Tuba
dc.date.accessioned2020-03-25T13:11:29Z
dc.date.available2020-03-25T13:11:29Z
dc.date.issued2017-12-29
dc.identifier.citationOkulu Emel, Tunç Gaffari, Eminoglu Fatma Tuba, Erdeve Ömer, Atasay Fatma Begüm, Arsan Saadet. Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism. Balkan J Med Genet 2017; 20(2): 95-98. doi: 10.1515/bjmg-2017-0031tr_TR
dc.identifier.uri10.1515/bjmg-2017-0031tr_TR
dc.identifier.urihttp://hdl.handle.net/20.500.12575/70759
dc.description.abstractGalactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by CTSA gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis result in the loss of function of protective protein. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. We report an early infantile form of galactosialidosis in a newborn with a novel mutation in CTSA gene.tr_TR
dc.language.isoentr_TR
dc.publisherBulgaria: Meditsinski Universitet - Sofiatr_TR
dc.relation.isversionof10.1515/bjmg-2017-0031
dc.rightsCC0 1.0 Universal*
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/*
dc.subjectGalactosialidosistr_TR
dc.subjectNewborntr_TR
dc.titleGalactosialidosis in a Newborn With a Novel Mutation in the CTSA Gene Presenting With Transient Hyperparathyroidismtr_TR
dc.typeArticletr_TR
dc.relation.journalBalkan Journal of Medical Geneticstr_TR
dc.contributor.departmentTıp Fakültesitr_TR
dc.contributor.authorID0000-0002-1101-3355tr_TR
dc.identifier.volume20tr_TR
dc.identifier.issue2tr_TR
dc.identifier.startpage95tr_TR
dc.identifier.endpage98tr_TR
dc.relation.publicationcategoryMakale - Uluslararası - Editör Denetimli Dergitr_TR


Files in this item

This item appears in the following Collection(s)

Show simple item record

CC0 1.0 Universal
Except where otherwise noted, this item's license is described as CC0 1.0 Universal