Galactosialidosis in a Newborn With a Novel Mutation in the CTSA Gene Presenting With Transient Hyperparathyroidism

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dc.contributor.authorOkulu, Emel
dc.contributor.departmentTıp Fakültesitr_TR
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.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.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.endpage98tr_TR
dc.identifier.issue2tr_TR
dc.identifier.startpage95tr_TR
dc.identifier.uri10.1515/bjmg-2017-0031tr_TR
dc.identifier.urihttp://hdl.handle.net/20.500.12575/70759
dc.identifier.volume20tr_TR
dc.language.isoentr_TR
dc.publisherBulgaria: Meditsinski Universitet - Sofiatr_TR
dc.relation.isversionof10.1515/bjmg-2017-0031
dc.relation.journalBalkan Journal of Medical Geneticstr_TR
dc.relation.publicationcategoryMakale - Uluslararası - Editör Denetimli Dergitr_TR
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

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