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Sample analysis and data interpretation for urine organic acid analyses (OAA) for metabolic diseases have not evolved significantly over the last two decades. We evaluated a number of potential improvements in the technology in order to increase productivity. Increasing numbers of this very important clinical test are being ordered resulting from expanded newborn screening programs and also due to...
Plasma acylcarnitine measurement is an important diagnostic tool for inherited disorders of fatty acid and organic acid metabolism. Biliary excretion has been shown to be the primary route of excretion for acylcarnitines and analysis of bile acylcarnitine profiles may provide greater sensitivity for detecting metabolic disorders. Disorders of fatty acid oxidation frequently present with deranged liver...
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