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Now showing items 11-17 of 17
Mucolipidosis III: two patients displaying genetic pleiotropism
(HMPG, 1977-01)
Two 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 ...
Leukaemogenesis in Down's syndrome
(Health & Medical Publishing Group, 1977)
Due to the fixed karotype and documented malignancy risk in patients with Down's syndrome, recently described aetiological factors can be assigned to their proper places in a conceptual framework for leukaemogenesis in ...
Leucocyte ultrastructure and folate metabolism in Down's syndrome
(Health & Medical Publishing Group, 1977)
Electron microscopic and hematologic investigation of peripheral blood showed a higher percentage of leukemia like nuclear ultrastructural abnormalities in the leucocytes of 30 individuals with Down's syndrome (mean 6,3%) ...
The need to repeat lumbar puncture
(Health & Medical Publishing Group, 1977)
4 Patients with bacterial meningitis are reported. On initial examination, 1 patient had a slightly abnormal cerebrospinal fluid (CSF), and in the other 3 patients, the CSF was completely normal. An obviously purulent CSF ...
Another phenocopy for chondrodysplasia punctata in addition to warfarin embryopathy?
(HMPG, 1978)
[No abstract available]
Hemoglobin M(Iwate) in Cape Town : a report of 2 cases
(Health & Medical Publishing Group, 1979)
Two siblings had suffered from cyanosis since birth owing to the presence of Hb M(Iwate). The diagnosis was confirmed by electrophoresis, spectroscopy and peptide analysis. The benign nature of this unusual condition is stressed.
Torsion of the spleen and associated 'prune belly syndrome' : a case report and review of the literature
(Health & Medical Publishing Group, 1978)
Splenic torsion as a complication of wandering spleen is rare. The authors report the clinical findings, diagnostic problems and treatment of a 1-year-old Coloured child (with classic 'prune belly syndrome') in whom the ...