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

Genes - 19 Aug 2021

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

Abstract excerpt

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 intermediary...

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Identifiers

PMID: 34440436
DOI: 10.3390/genes12081262
PMCID: PMC8391361

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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