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- Bird 2016 Abstract IOC115 + (Using fresh (and frozen?) patient: muscle, … Using fresh (and frozen?) patient: muscle, liver and fibroblasts, we aim to.</br>#Establish reference ranges</br>#Validate the technique in biopsies and cultured fibroblasts from patients with a confirmed inherited mitochondrial disorder and patients with non alcoholic liver steatosis AND</br>#Prospectively validate the assay in 150 patients suspected of a mitochondrial disorder </br></br>In parallel, we will test these samples for mitochondrial function using established protocols to measure ATP production, and respiratory chain enzyme activities, such that we can compare the diagnostic capabilities of these parallel diagnostic tools.lities of these parallel diagnostic tools.)
