TAY-SACHS-DISEASE - A CASE-REPORT

Basit Öğe Kaydı
dc.authorwosidarisoy, Ayse Engin/G-6879-2018
dc.contributor.authorARISOY, AE
dc.contributor.authorOZDEN, S
dc.contributor.authorCILIV, G
dc.contributor.authorOZALP, I
dc.date.accessioned2024-08-04T21:01:17Z
dc.date.available2024-08-04T21:01:17Z
dc.date.issued1995
dc.departmentİnönü Üniversitesien_US
dc.description.abstractTay-Sachs disease (G(1/2) gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A. The case presented is of a twelve-month-old girl brought to the hospital because of mental-motor deterioration and convulsions. She was the child of first cousins and had a history of the deaths of two siblings with the same manifestations. Generalized hypotonia, macrocephaly, hyperacusis and a retinal cherry red spot appearance were present. There was no organomegaly. The diagnosis of Tay-Sachs disease was made by means of absence of serum hexosaminidase A activity.en_US
dc.identifier.endpage56en_US
dc.identifier.issn0041-4301
dc.identifier.issue1en_US
dc.identifier.pmid7732608en_US
dc.identifier.startpage51en_US
dc.identifier.urihttps://hdl.handle.net/11616/104258
dc.identifier.volume37en_US
dc.identifier.wosWOS:A1995RC93000008en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish J Pediatricsen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectTAY-SACHSen_US
dc.subjectDISEASEen_US
dc.subjectHEXOSAMINIDASE Aen_US
dc.titleTAY-SACHS-DISEASE - A CASE-REPORTen_US
dc.typeNoteen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu