A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene

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dc.contributor.authorKartal, Ayse
dc.contributor.authorAydin, Kursad
dc.date.accessioned2020-03-26T19:33:39Z
dc.date.available2020-03-26T19:33:39Z
dc.date.issued2017
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractGalactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal beta-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35 weeks of gestation. After birth she remained at the neonatal intensive care unit. Physical examination revealed, coarse facial features, hepatomegaly, cardiac murmur and diffuse hypotonia. The patient's mother had a past history of fetal hydrops history. The diagnosis of galactosialidosis was confirmed by decreased activity of beta-galactosidase and undetectable neuraminidase activity in fibroblasts. Genetic examination revealed a new homozygous mutation (c.1284delG) in the CTSA gene.en_US
dc.identifier.doi10.1007/s11011-017-0042-0en_US
dc.identifier.endpage975en_US
dc.identifier.issn0885-7490en_US
dc.identifier.issn1573-7365en_US
dc.identifier.issue4en_US
dc.identifier.pmid28555253en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage973en_US
dc.identifier.urihttps://dx.doi.org/10.1007/s11011-017-0042-0
dc.identifier.urihttps://hdl.handle.net/20.500.12395/34760
dc.identifier.volume32en_US
dc.identifier.wosWOS:000405327200005en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSPRINGER/PLENUM PUBLISHERSen_US
dc.relation.ispartofMETABOLIC BRAIN DISEASEen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectGalactosialidosisen_US
dc.subjectLysosomal storage diseaseen_US
dc.subjectHomozygous mutationen_US
dc.subjectFetal hydropsen_US
dc.titleA Turkish case of galactosialidosis with a new homozygous mutation in CTSA geneen_US
dc.typeArticleen_US

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