Inborn Errors Of Metabolism

In most countries, a neonatal screening of all newborns are routinely performed to test for specific inherited metabolic disorders and other diseases, including phenylketonuria, tyrosinemia, biotinidase, homocystinuria, maple syrup syndrome and galactosemia. Many states (n. D. Talk .: well as most federal states in Germany) have an expanded screening program that captures much more inherited metabolic disorders, including disorders of fatty acid oxidation and other organic Azidämien. For a comprehensive…

September 3, 2018
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