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  1. Familial hypercholesterolemia

    Familial hypercholesterolemia

    Item type: Journal Article • Journal: Journal of Endocrinology, Metabolism and Diabetes of South Africa • Authors: DJ Blom --- Division of Lipidology, Department of Medicine, South Africa
    Familial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised by markedly elevated LDL cholesterol, autosomal dominant inheritance, premature cardiovascular disease and tendon xanthomata. FH is a genetically heterogeneous disorder, but the most common underlying...
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  2. Papillary thyroid cancer: sporadic or inherited?

    Papillary thyroid cancer: sporadic or inherited?

    Item type: Journal Article • Journal: Journal of Endocrinology, Metabolism and Diabetes of South Africa • Authors: S Mogili --- Resident Department of Internal Medicine, K Rajamani --- Endocrinology and Diabetes Center,
    Background: Papillary thyroid cancer (PTC) is one of the most common thyroid malignancies, with an increase in incidence rates over the past few decades. Although the exact cause of thyroid cancer in most patients is still unclear, the possibility of...
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  3. Case Studies: Unusual phaeochromocytomas in African families: the importance of genetic testing

    Case Studies: Unusual phaeochromocytomas in African families: the importance of genetic testing

    Item type: Journal Article • Journal: Journal of Endocrinology, Metabolism and Diabetes of South Africa • Authors: A Krause --- Division of Human Genetics, South Africa C Feben --- Division of Human Genetics, South Africa C Van Wyk --- Division of Human Genetics, South Africa K Huddle --- Department of Medicine, Division of Endocrinology & Metabolism, South Africa FJ Raal --- Department of Medicine, Division of Endocrinology & Metabolism, South Africa
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  4. Familial hypercholesterolemia

    Familial hypercholesterolemia

    Item type: Journal Article • Journal: South African Family Practice • Authors: DJ Blom --- Division of Lipidology, Department of Medicine, South Africa
    Familial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised by markedly elevated LDL cholesterol, autosomal dominant inheritance, premature cardiovascular disease and tendon xanthomata. FH is a genetically heterogeneous disorder, but the most common underlying...
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  5. Familial and genetic cancers in gynaecology

    Familial and genetic cancers in gynaecology

    Item type: Journal Article • Journal: Southern African Journal of Gynaecological Oncology • Authors: G. Dreyer --- Department of Obstetrics and Gynaecology, South Africa
    The diagnosis of inherited cancer-susceptibility syndromes can enable identification of individuals at increased risk for earlyonset cancer. The treatment and prognosis of patients diagnosed with malignancy due to a germ-line mutation may differ from the standard therapy.
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  6. Invisible work: Child work in households with a person living with HIV/AIDS in Central Uganda

    Invisible work: Child work in households with a person living with HIV/AIDS in Central Uganda

    Item type: Journal Article • Journal: SAHARA-J: Journal of Social Aspects of HIV/AIDS • Authors: Julie Abimanyi-Ochom --- , , Australia Brett Inder --- , , Australia Bruce Hollingsworth --- , , UK Paula Lorgelly --- , , Australia
    Background: HIV/AIDS has led to increased mortality and morbidity, negatively impacting adult labour especially in HIV/AIDS burdened Sub-Saharan Africa. There has been some exploration of the effects of HIV/AIDS on paid child labour, but little empirical work on children’s non-paid...
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