Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center

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 patie...

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Detalhes bibliográficos
Autor principal: Barbosa-Gouveia, S (author)
Outros Autores: Vázquez-Mosquera, ME (author), González-Vioque, E (author), Álvarez, JV (author), Chans, R (author), Laranjeira, F (author), Martins, E (author), Ferreira, AC (author), Avila-Alvarez, A (author), Couce, ML (author)
Formato: article
Idioma:eng
Publicado em: 2022
Assuntos:
Differential diagnosis
Genetic diagnosis
Inborn errors of metabolism
HDE MTB
Texto completo:http://hdl.handle.net/10400.17/4008
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/4008

Texto Completo

http://hdl.handle.net/10400.17/4008

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