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Navodila natečaja

Inborn errors of metabolism (IEM) are defined as monogenic diseases resulting in deficient activity in a single enzyme in a pathway of intermediary metabolism. Over 500 human diseases due to inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The treatment of these disorders has seen significant advances over the past decade.

This program intends to summarize the dosages of medications used in the treatment of IEM as supported by the best level of evidence that currently exists in the literature. The authors hope that it will serve as a quick and easy access for a comprehensive list of medications used in this important clinical field.

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  • alfonsoverlezza
    alfonsoverlezza
    • pred 6 let

    any updates of this?

    • pred 6 let
  • eibuibrahim
    eibuibrahim
    • pred 6 let

    please check & feedback, thank you .

    • pred 6 let

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