Gaucer Disease in the Ashkenazi-Jewish Community of South Africa

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dc.contributor.advisorBeighton, Peteren_ZA
dc.contributor.authorGoldblatt, Jacken_ZA
dc.date.accessioned2015-10-28T05:34:42Z
dc.date.available2015-10-28T05:34:42Z
dc.date.issued1980en_ZA
dc.description.abstractGaucher disease is a biochemical genetic disorder of the lipid storage group. It is characterised by an accumulation of a glycosphingolipid, glycosyl ceramide in the reticulo-endothelial system. The condition presents clinically with hepatosplenomegaly, haematologic and orthopaedic problems. Affected individuals suffer from chronic ill-health and debility, with a clinical course of acute exacerbations, remissions and relapses. The basic defect has been shown to be a genetically determined abnormality in the enzyme beta-glucosidase, (Brady et aZ, 1965; Patrick, 1965). The diagnosis can now be accurately confirmed by laboratory procedures, which also enable determination of carrier status. Of particular interest is the high prevalence of the condition in the Ashkenazi-Jews. Fried, (1958), in a survey of cases in Jerusalem, estimated the minimal carrier or heterozygote rate to be 1 in 25. Other studies of Ashkenazi-Jews have revealed carrier frequencies ranging from 1 in 25 to about 1 in 40. This stimulated the investigation which was initially undertaken under the supervision of Professor Beighton in the Department of Human Genetics, University of Cape Town Medical School in 1975 and 1976. Further data has been accumulated by the author as a medical registrar at Groote Schuur Hospital in the ensuing period until 1979.en_ZA
dc.identifier.apacitationGoldblatt, J. (1980). <i>Gaucer Disease in the Ashkenazi-Jewish Community of South Africa</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics. Retrieved from http://hdl.handle.net/11427/14392en_ZA
dc.identifier.chicagocitationGoldblatt, Jack. <i>"Gaucer Disease in the Ashkenazi-Jewish Community of South Africa."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 1980. http://hdl.handle.net/11427/14392en_ZA
dc.identifier.citationGoldblatt, J. 1980. Gaucer Disease in the Ashkenazi-Jewish Community of South Africa. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Goldblatt, Jack AB - Gaucher disease is a biochemical genetic disorder of the lipid storage group. It is characterised by an accumulation of a glycosphingolipid, glycosyl ceramide in the reticulo-endothelial system. The condition presents clinically with hepatosplenomegaly, haematologic and orthopaedic problems. Affected individuals suffer from chronic ill-health and debility, with a clinical course of acute exacerbations, remissions and relapses. The basic defect has been shown to be a genetically determined abnormality in the enzyme beta-glucosidase, (Brady et aZ, 1965; Patrick, 1965). The diagnosis can now be accurately confirmed by laboratory procedures, which also enable determination of carrier status. Of particular interest is the high prevalence of the condition in the Ashkenazi-Jews. Fried, (1958), in a survey of cases in Jerusalem, estimated the minimal carrier or heterozygote rate to be 1 in 25. Other studies of Ashkenazi-Jews have revealed carrier frequencies ranging from 1 in 25 to about 1 in 40. This stimulated the investigation which was initially undertaken under the supervision of Professor Beighton in the Department of Human Genetics, University of Cape Town Medical School in 1975 and 1976. Further data has been accumulated by the author as a medical registrar at Groote Schuur Hospital in the ensuing period until 1979. DA - 1980 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 1980 T1 - Gaucer Disease in the Ashkenazi-Jewish Community of South Africa TI - Gaucer Disease in the Ashkenazi-Jewish Community of South Africa UR - http://hdl.handle.net/11427/14392 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/14392
dc.identifier.vancouvercitationGoldblatt J. Gaucer Disease in the Ashkenazi-Jewish Community of South Africa. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 1980 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/14392en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherHuman Geneticsen_ZA
dc.titleGaucer Disease in the Ashkenazi-Jewish Community of South Africaen_ZA
dc.typeDoctoral Thesis
dc.type.qualificationlevelDoctoral
dc.type.qualificationnameMDen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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