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Browsing by Author "Henderson, Howard"

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The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa

Author: Henderson, Howard ; Leisegang, Felicity ; Brown, Ruth ; Eley, Brian Date: 2002 BACKGROUND:The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. METHODS: Diagnoses were based on thin layer chromatography for ... Read more c b
DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients

Author: Swarts, Liezel Catharine Date: 2004 Hyperammonaemia is not an infrequent presentation in the newborn or neonatal period. While the majority are transitory in nature and due to infective processes or liver pathology/immaturity, a significant number are due to defects in enzymes ... Read more
Growth of luciferase-transfected BCG in whole blood : use of a novel assay to study immune responses to mycobacteria in children

Author: Tena, Nontobeko Gwendoline Date: 2003 The existing Bacille Calmette-Guerin (BCG) vaccine offers some protection against TB, but its efficacy varies for unknown reasons. In order to develop an effective vaccine, a comprehensive understanding of protective immunity in adults and ... Read more
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier

Author: Böhm, Marlies ; Henderson, Howard ; van der Zwan, Henriette ; Basson, Sandra Date: 2014 L-2 hydroxyglutaric aciduria is an autosomal recessive error of metabolism that manifests as an encephalopathy. The most common presenting signs are seizures, tremors, ataxia and/ or dementia. Some affected dogs show only subtle behavioural ... Read more
The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa

Author: Abera, Aron Date: 2005 Monogenic defects in the low density lipoprotein (LDL) uptake pathway occur commonly in South Africans, particularly in the Afrikaner community where inheritance is typically autosomal dominant, arising predominantly from abnormal structure ... Read more
Polymorphic variation in TIRAP is not associated with susceptibility to childhood TB but may determine susceptibility to TBM in some ethnic groups

Author: Dissanayeke, Shobana Rebecca ; Levin, Samuel ; Pienaar, Sandra ; Wood, Kathryn ; Eley, Brian ; Beatty, David ; Henderson, Howard ; Anderson, Suzanne ; Levin, Michael Date: 2009 Host recognition of mycobacterial surface molecules occurs through toll like receptors (TLR) 2 and 6. The adaptor protein TIRAP mediates down stream signalling of TLR2 and 4, and polymorphisms in the TIRAP gene ( TIRAP ) have been associated ... Read more c b
Screening of the human tumor necrosis factor (TNF) gene and its receptor 1 (TNFR1) gene for DNA alterations and the subsequent investigation of these and an IL12p40 polymorphism for an association with paediatric tuberculosis

Author: Lampel, Netanya Date: 2004 Infection with Mycobacterium tuberculosis is characterised by diverse outcomes; the majority of infected individuals remain well and yet others develop disease ranging from limited pulmonary tuberculosis to severe disseminated disease. The ... Read more
Whole Blood Mitochondrial DNA Depletion in Human Immunodeficiency Virus-Infected Children

Author: van der Watt, George Frederick Date: 2010 Background: Nucleoside reverse transcriptase inhibitors (NRTIs) interfere with mitochondrial DNA polymerase gamma causing significant toxic effects, including fatal lactic acidosis. Little is known about mitochondrial DNA (mtDNA) in human ... Read more
X-linked Hyper IgM (HIGM1) in an African kindred: the first report from South Africa

Author: Pienaar, Sandra ; Eley, Brian ; Hughes, Jane ; Henderson, Howard Date: 2003 BACKGROUND:The objective of this study was to describe the clinical and molecular features of the first South African family with X-linked hyper-IgM syndrome (HIGM1). METHODS: Diagnoses were based on immunoglobulin results and the absence of ... Read more c b