Browsing Masters Degrees (Anatomical Pathology) by Title
Now showing items 14-17 of 17
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The MED-PED project : presymptomatic diagnosis in families with disease- related LDL receptor gene mutations
(Stellenbosch : Stellenbosch University, 2000-03)ENGLISH ABSTRACT: Familial hypercholesterolaemia (FH) contributes significantly to the high death rate from cardiovascular disease worldwide. FH is a common autosomal co-dominant disease characterised by raised cholesterol ... -
Molecular-genetic analysis of Hirschsprung's disease in South Africa
(Stellenbosch : Stellenbosch University, 2000-03)ENGLISH ABSTRACT: Hirschsprung's disease, or aganglionic megacolon, is a common cause of intestinal obstruction in neonates and is associated with the congenital absence of intrinsic ganglion cells in the myenteric and ... -
Ontogeny of the innate immune response in healthy South African infants
(Stellenbosch : Stellenbosch University, 2012-12)ENGLISH ABSTRACT: Infection is a major cause of morbidity and mortality in infants within the first few months of life. Susceptibility to infectious disease in this vulnerable population is more prevalent in resource-limited ... -
Prevalence of succinate dehydrogenase deficiency in paragangliomas and pheochromocytomas at Tygerberg Hospital: a retrospective review.
(Stellenbosch : Stellenbosch University, 2020-12)IntroductionPheochromocytomas (PC) and paragangliomas (PGL) are rare neural crest-derived tumours that occur at adrenal and extra-adrenal sites. These tumours may be sporadic but a significant proportion are caused by ...
