Mucolipidosis III: two patients displaying genetic pleiotropism

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dc.contributor.authorGericke, G. S.
dc.date.accessioned2011-03-18T14:59:56Z
dc.date.available2011-03-18T14:59:56Z
dc.date.issued1977-01
dc.descriptionArticle
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractTwo Cape Colored siblings with typical features of Hurler's syndrome, but without mucopolysacchariduria or mucopolysaccharide accumulation in tissues, are presented. The clinical features, in conjunction with raised β D galactosidase and α L fucosidase levels in fibroblast cultures from 1 of the patients, suggest the diagnosis of a mucolipidosis. Theories relating to the intracellular deficiency and extracellular excess of lysosomal enzymes in these conditions are reviewed. Phenotypical and cell culture differences between 2 siblings who display the same overall clinical syndrome, illustrate the genetic pleiotropism inherent in this group of diseases.en_ZA
dc.description.versionPublishers' version
dc.format.extentp. 140-144 : ill.
dc.identifier.citationGericke, G. S. 1977. Mucolipidosis Ill: Two Patients Displaying Genetic Pleiotropism. South African Medical Journal, 29 January : 140-144en_ZA
dc.identifier.issn2078-5135 (online) 0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/8147
dc.language.isoenen_ZA
dc.publisherHMPG
dc.rights.holderThe author
dc.subjectMucolipidosis type 3 -- Diagnosisen_ZA
dc.subjectLysosomal storage diseases -- Etiologyen_ZA
dc.subjectPleiotropism -- Genetic aspectsen_ZA
dc.subjectLysosomal storage diseases -- Diagnosisen_ZA
dc.subjectHurler's syndromeen_ZA
dc.titleMucolipidosis III: two patients displaying genetic pleiotropismen_ZA
dc.typeArticle
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