Tay-Sachs disease: a case report.

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dc.authorscopusid6603824691
dc.authorscopusid7005349346
dc.authorscopusid6701386034
dc.authorscopusid7006028347
dc.contributor.authorArisoy A.E.
dc.contributor.authorOzden S.
dc.contributor.authorCiliv G.
dc.contributor.authorOzalp I.
dc.date.accessioned2024-08-04T19:59:13Z
dc.date.available2024-08-04T19:59:13Z
dc.date.issued1995
dc.departmentİnönü Üniversitesien_US
dc.description.abstractTay-Sachs disease (GM2 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.scopus2-s2.0-0029206431en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage51en_US
dc.identifier.urihttps://hdl.handle.net/11616/90478
dc.identifier.volume37en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofThe Turkish journal of pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectbeta n acetylhexosaminidaseen_US
dc.subjectarticleen_US
dc.subjectblooden_US
dc.subjectcase reporten_US
dc.subjectfemaleen_US
dc.subjecthumanen_US
dc.subjectinfanten_US
dc.subjectonset ageen_US
dc.subjectpathologyen_US
dc.subjectretina macula degenerationen_US
dc.subjectTay Sachs diseaseen_US
dc.subjectAge of Onseten_US
dc.subjectbeta-N-Acetylhexosaminidaseen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectInfanten_US
dc.subjectMacular Degenerationen_US
dc.subjectTay-Sachs Diseaseen_US
dc.titleTay-Sachs disease: a case report.en_US
dc.typeArticleen_US

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