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Showing 1 to 2 of 2 for “"Metabolism, Inborn Errors"”.
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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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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 …