Integrative approaches for the diagnosis of inborn errors of metabolism

Rocha, H.

http://hdl.handle.net/10400.18/7167

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Rocha, H.

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Inborn errors of metabolism (IEM) are a group of inherited genetic disorders affecting Human metabolism. Several examples will be presented illustrating the integration of the diagnostic approaches for different disease groups.

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Inborn Errors of Metabolism IEM Diagnosis New Trends Doenças Genéticas

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http://hdl.handle.net/10400.18/7167

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Clin Chim Acta. 2019;493: S738. doi:10.1016/j.cca.2019.03.1430 (EuroMedLab 2019 Abstracts)

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10.1016/j.cca.2019.03.1430

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DGH - Apresentações orais em encontros internacionais

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Integrative approaches for the diagnosis of inborn errors of metabolism

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