Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.

doi:10.3390/ijms252111722

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Article

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.

International journal of molecular sciences - 31 Oct 2024

Vela-Amieva Marcela, Alcántara-Ortigoza Miguel Angel, González-Del Angel Ariadna, Fernández-Hernández Liliana, Reyna-Fabián Miriam Erandi, Estandía-Ortega Bernardette, Guillén-López Sara, López-Mejía Lizbeth, Belmont-Martínez Leticia, Carrillo-Nieto Rosa Itzel, Ibarra-González Isabel, Ryu Seung-Woo, Lee Hane, Fernández-Lainez Cynthia

Abstract excerpt

Biochemical phenotyping has been the milestone for diagnosing and managing patients affected by inborn errors of intermediary metabolism (IEiM); however, identifying the genotype responsible for these monogenic disorders greatly contributes to achieving these goals. Herein, whole-exome sequencing (WES) was used to determine the genotypes of 95 unrelated Mexican pediatric patients suspected of having IEiM. They...

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PMID: 39519275
DOI: 10.3390/ijms252111722
PMCID: PMC11546494

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