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

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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Bibliographic Details
Main Authors: Sofia Barbosa-Gouveia, María E. Vázquez-Mosquera, Emiliano González-Vioque, José V. Álvarez, Roi Chans, Francisco Laranjeira, Esmeralda Martins, Ana Cristina Ferreira, Alejandro Avila-Alvarez, María L. Couce
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
differential diagnosis
genetic diagnosis
inborn errors of metabolism
Online Access:https://www.mdpi.com/2073-4425/12/8/1262

Internet

https://www.mdpi.com/2073-4425/12/8/1262

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