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Publicação
Integrative approaches for the diagnosis of inborn errors of metabolism
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Autores
Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Inborn Errors of Metabolism IEM Diagnosis New Trends Doenças Genéticas
Contexto Educativo
Citação
Clin Chim Acta. 2019;493: S738. doi:10.1016/j.cca.2019.03.1430 (EuroMedLab 2019 Abstracts)