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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Detalles Bibliográficos
Autores principales: Barbosa-Gouveia, Sofia, Vázquez-Mosquera, María E., González-Vioque, Emiliano, Álvarez, José V., Chans, Roi, Laranjeira, Francisco, Martins, Esmeralda, Ferreira, Ana Cristina, Avila-Alvarez, Alejandro, Couce, María L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391361/
https://www.ncbi.nlm.nih.gov/pubmed/34440436
http://dx.doi.org/10.3390/genes12081262

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