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Inborn errors


Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most...
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Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of carbohydrates.
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Overview: Inborn errors of metabolism (IEMs) individually are rare but collectively are common. ... for each individual inborn error of metabolism vary, but ...
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Media: Inborn errors of metabolism (IEMs) individually are rare but collectively ... Differential Diagnoses & Workup: Pediatrics, Inborn Errors of Metabolism ...
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Buy Inborn Errors of Metabolism for $22.01 today & save. Buy.com books: new ~ used ~ paperbacks ~ NYTBS at the cheapest prices.
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Inborn errors of metabolism are rare genetic disorders in which the body cannot ... Several inborn errors of metabolism cause mental retardation if not controlled. ...
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Epilepsy and seizure diagnosis, treatment, and information for ... Most inborn errors of metabolism present with progressive neurologic and systemic symptoms. ...
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Inborn errors of metabolism are rare genetic disorders in which the body cannot ... Several inborn errors of metabolism cause mental retardation if not controlled. ...
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Nasser M, Javaheri H, Fedorowicz Z, Noorani Z. Carnitine supplementation for inborn errors of metabolism. Cochrane Database of Systematic Reviews 2009, Issue 2. ...
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Many of the inborn errors of metabolism, including urea cycle defects, organic ... An infant with an inborn error of metabolism who presents more abruptly or in ...
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Propionic acidemia can be a devastating condition, but with careful treatment it is sometimes possible for people ... Inborn errors of metabolism should be ...
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INTRODUCTION Metabolic disorders result from the absence or abnormality of an enzyme ... Overview of the evaluation of inborn errors of metabolism in children ...
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Nine recognized inborn errors of bile acid metabolism have been identified that ... Metabolism, Inborn Errors/therapy. Substances: Bile Acids and Salts. Grant ...
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The Inborn Errors of Metabolism map identifies the sites of over 40 such ... The new edition of the Inborn Errors of Metabolism Map is now available! ...
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