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Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease

Journal of Inherited Metabolic Disease
2025-01 | Journal article
Contributors: Juan Ramón Tejedor; Alejandro Soriano‐Sexto; Leonardo Beccari; Natalia Castejón‐Fernández; Patricia Correcher; Lidia Sainz‐Ledo; Juan José Alba‐Linares; Rocío G. Urdinguio; Magdalena Ugarte; Agustín F. Fernández et al.
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Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

International Journal of Molecular Sciences
2022-10-25 | Journal article
Contributors: Alejandro Soriano-Sexto; Diana Gallego; Fátima Leal; Natalia Castejón-Fernández; Rosa Navarrete; Patricia Alcaide; María L. Couce; Elena Martín-Hernández; Pilar Quijada-Fraile; Luis Peña-Quintana et al.
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