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Showing 1 to 13 of 13 for “"Inborn Errors of Metabolism"”.
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Common 'Inborn Errors' of Metabolism in the General Population
Inborn errors of metabolism (IEMs) are a group of disorders characterised by the toxic accumulation or deficiency of circulating molecules (‘metabolites’) caused by rare genetic mutations. Previous studies have identified select examples where common variants at genes known to cause rare Mendelian …
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Determination of the frequency of four pathogenic variants causing inborn errors of metabolism in the western cape black population, using a multiplexed arms pcr approach
Background: Carrier frequency determination of repeatedly identified pathogenic variants causing inborn errors of metabolism will enable early diagnosis and treatment of illness, and counselling of prospective parents. Four single nucleotide variants (SNV) were identified in our black South African …
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Applications of Disposable Pipette Extraction for Analysis of Drugs of Abuse Vitamin D Metabolism Testosterone and Inborn Errors of Metabolism by Gas and Liquid Chromatography/mass Spectrometry
… and polarity, two major ion exchange phases of weak cation and anion were experimented. For weak anion exchange, oxalic acid was found to irreversibly bind to the sorbent and small polar acid, uracil and thymine cannot be effectively extracted. For weak cation exchange, four extraction …
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Metabolic Control, Quality of Life, and Body Image In Patients With Glycogen Storage Disease Type Ia
<p>Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary to an inability to properly break down …
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Oxygen, the invisible orchestrator of metabolism and disease : a focus on mitochondrial And peroxisomal dysfunction
… time and track closely with the development of multicellular life, speciation events, appearance of placental mammals and the creation of a cardio-respiratory system. As the final electron acceptor for aerobic ATP production, oxygen allows energy-intensive metabolic pathways to exist. …
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The Contextual Roles of Isocitrate Dehydrogenase-1 and Isocitrate Dehydrogenase-2 in Electron Transport Chain Complex III Deficiency
Inborn errors of metabolism provide excellent opportunities in translational research, because individual clinical cases can stimulate insights that lead to a deeper understanding of human metabolism and sometimes inform personalized patient care. Our clinical genetics team identified a female …
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Glucose-6-Phosphatase in Metabolic Disease and Cancer
Inborn errors of metabolism (IEMs), which are caused by germline mutations in metabolic enzymes and nutrient transporters, provide an opportunity to observe how discrete metabolic defects cause human disease. Glycogen Storage Disease Type 1a (GSD1a), or von Gierke's disease, is an autosomal …
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ADVANCED AAV-MEDIATED LIVER-DIRECTED GENE THERAPIES FOR HAEMOPHILIA A AND MUCOPOLYSACCHARIDOSIS TYPE VI
… (~4.7 kb) and the non-integrative nature of AAV vectors prevent their application to conditions caused by either mutations in large genes (i.e. F8 whose coding sequence exceeds ~ 4.7 kb) or to those that require early stage of intervention, such as early-onset inborn errors of metabolism. …
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Metabolomics of Mammalian and Cellular Models of Aging
<p>Aging is often associated with impaired cognition and a progressive loss of organ function over time accompanied by an increased susceptibility for many disorders, including Alzheimer's disease (AD), Parkinson's disease (PD), heart disease, osteoporosis, type II diabetes, and many forms of …
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Nutrition Support and Newborn Screening in the NICU Population: Is There a Link?
… Recent research is revealing the high rate of false-positive screening results for IEMs in the NICU population. No study published to date has specifically studied the possible relationship between nutrition and newborn screening in this population. Objective: It is suspected that NICU …
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Sterol Binding to Niemann-Pick Type C1 Disease Protein (NPC1) - Implications for its Function in Cholesterol Transport
Through studies of inborn errors of metabolism, scientists have uncovered many pathways involved in the transport of cholesterol within cells. Despite intense scientific interest, the mechanism by which cholesterol is transported between membrane compartments in animal cells remains obscure. …
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A comparison of different methods of determination of amino acid profiles in mammalian tissues: a study of teratogenic effects of vigabatrin and alcohol
… tool for the diagnosis and monitoring of amino acid levels in normal and diseased conditions resulting from inborn errors of metabolism. Normaly, a volume of 1 ml of venous blood is often recommended but this is a serious problem when blood has to be taken from new born and small …