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Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Me...

Barbosa-Gouveia, S; Vázquez-Mosquera, ME; González-Vioque, E; Álvarez, JV; Chans, R; Laranjeira, F; Martins, E; Ferreira, AC; Avila-Alvarez, A

Next-generation sequencing (NGS) technologies have been proposed as a first-line test for the diagnosis of inborn errors of metabolism (IEM), a group of genetically heterogeneous disorders with overlapping or nonspecific phenotypes. Over a 3-year period, we prospectively analyzed 311 pediatric patients with a suspected IEM using four targeted gene panels. The rate of positive diagnosis was 61.86% for intermedia...

Date: 2021   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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