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inborn error of metabolism
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Recommandé
inborn error of metabolism
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Approach to Inborn Errors of Metabolism for an Endocrinologist. Presented at ESICON 2018 in Bhubnewshwar.
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IEM comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product.
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inborn errors of metabolism. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food
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IEM comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product.
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inborn errors of metabolism. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food
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An inherited enzyme deficiency leading to the disruption of normal bodily metabolism. Accumulation of a toxic substrate. Impaired formation of a product normally produced by the deficient enzyme.
Inborn errors of metabolism
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Inborn errors of metabolism
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phenylketonuria aminoacid metabolism biochemistry paediatrics symptoms management urea cycle
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inborn error of metabolism
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