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COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

Abstract The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code for enzymes, cofactors, or structural prot...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin
Format: Artigo
Sprache:Inglês
Veröffentlicht: Sociedade Brasileira de Genética 2021-12-01
Schriftenreihe:Genetics and Molecular Biology
Schlagworte:
COVID-19
Inborn Errors of Metabolism
lysosomal disorders
reference center
Brazil
Online-Zugang:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000100103&tlng=en
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