Gaucher's disease in the Cape Coloured population of the RSA, including a family with 5 affected siblings

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dc.contributor.authorSwart, A. L.en_ZA
dc.contributor.authorHesseling, P. B.en_ZA
dc.contributor.authorHayden, M. R.en_ZA
dc.date.accessioned2011-03-18T14:57:28Z
dc.date.available2011-03-18T14:57:28Z
dc.date.issued1987
dc.descriptionCITATION: Swart, A. L., Hesseling, P. B. & Hayden, M. R. 1987. Gaucher's disease in the Cape Coloured population of the RSA, including a family with 5 affected siblings. South African Medical Journal, 71:97-99.
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractNine Cape Coloured children from four families with severe non-neuropathic Gaucher's disease are documented. The diagnosis was confirmed histologically in the bone marrow, spleen and liver, and by serum acid phosphatase and leucocyte β-glucosidase assays. This represents a minimum prevalence for Gaucher's disease of 1 in 247,350 in this population and an approximate genetic carrier rate of 1 in 230 for the abnormal gene. A family with 5 affected siblings is recorded. The severe early clinical expression documented in these coloured patients is similar to that described in the Afrikaner population and differs from the less severe expression of Gaucher's disease in the South African Ashkenazi Jewish population. Gaucher's disease in the Cape Coloured population presents with a precocious onset, causes severe complications and progresses rapidly.
dc.description.versionPublisher’s version
dc.format.extent3 pages
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7438
dc.language.isoen
dc.publisherHealth & Medical Publishing Group
dc.rights.holderSouth African Medical Journal
dc.subjectGaucher's diseaseen_ZA
dc.subjectChildren -- Diseasesen_ZA
dc.titleGaucher's disease in the Cape Coloured population of the RSA, including a family with 5 affected siblingsen_ZA
dc.typeArticle
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