Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Autor: Soriano-Sexto, Alejandro¹ (AUTHOR), Gallego, Diana¹ (AUTHOR), Leal, Fátima¹ (AUTHOR), Castejón-Fernández, Natalia¹ (AUTHOR), Navarrete, Rosa¹ (AUTHOR), Alcaide, Patricia¹ (AUTHOR), Couce, María L.² (AUTHOR), Martín-Hernández, Elena³ (AUTHOR), Quijada-Fraile, Pilar³ (AUTHOR), Peña-Quintana, Luis⁴ (AUTHOR), Yahyaoui, Raquel⁵ (AUTHOR), Correcher, Patricia⁶ (AUTHOR), Ugarte, Magdalena¹ (AUTHOR), Rodríguez-Pombo, Pilar¹ (AUTHOR), Pérez, Belén¹ (AUTHOR) bperez@cbm.csic.es

Publikováno v: International Journal of Molecular Sciences. Nov2022, Vol. 23 Issue 21, p12850. 15p.

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

Autor: Tejedor JR; Nanomaterials and Nanotechnology Research Centre (CINN-CSIC), Spanish National Research Council (CSIC), Principality of Asturias, Spain.; Health Research Institute of Asturias (ISPA), Foundation for Biomedical Research and Innovation in Asturias (FINBA), Principality of Asturias, Spain.; University Institute of Oncology of Asturias (IUOPA), Principality of Asturias, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Soriano-Sexto A; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Molecular Disease Diagnostic Center (CEDEM), Department of Molecular Biology, Autonomous University of Madrid (UAM), Madrid, Spain.; Centre for Molecular Biology (CBMSO), Spanish National Research Council (CSIC), Madrid, Spain.; Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain., Beccari L; Centre for Molecular Biology (CBMSO), Spanish National Research Council (CSIC), Madrid, Spain., Castejón-Fernández N; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Molecular Disease Diagnostic Center (CEDEM), Department of Molecular Biology, Autonomous University of Madrid (UAM), Madrid, Spain.; Centre for Molecular Biology (CBMSO), Spanish National Research Council (CSIC), Madrid, Spain.; Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain., Correcher P; Nutrition and Metabolopathologies Unit, La Fe University Hospital, Valencia, Spain., Sainz-Ledo L; Nanomaterials and Nanotechnology Research Centre (CINN-CSIC), Spanish National Research Council (CSIC), Principality of Asturias, Spain.; Health Research Institute of Asturias (ISPA), Foundation for Biomedical Research and Innovation in Asturias (FINBA), Principality of Asturias, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Alba-Linares JJ; Nanomaterials and Nanotechnology Research Centre (CINN-CSIC), Spanish National Research Council (CSIC), Principality of Asturias, Spain.; Health Research Institute of Asturias (ISPA), Foundation for Biomedical Research and Innovation in Asturias (FINBA), Principality of Asturias, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Urdinguio RG; Nanomaterials and Nanotechnology Research Centre (CINN-CSIC), Spanish National Research Council (CSIC), Principality of Asturias, Spain.; Health Research Institute of Asturias (ISPA), Foundation for Biomedical Research and Innovation in Asturias (FINBA), Principality of Asturias, Spain.; University Institute of Oncology of Asturias (IUOPA), Principality of Asturias, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Ugarte M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Molecular Disease Diagnostic Center (CEDEM), Department of Molecular Biology, Autonomous University of Madrid (UAM), Madrid, Spain.; Centre for Molecular Biology (CBMSO), Spanish National Research Council (CSIC), Madrid, Spain.; Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain., Fernández AF; Nanomaterials and Nanotechnology Research Centre (CINN-CSIC), Spanish National Research Council (CSIC), Principality of Asturias, Spain.; Health Research Institute of Asturias (ISPA), Foundation for Biomedical Research and Innovation in Asturias (FINBA), Principality of Asturias, Spain.; University Institute of Oncology of Asturias (IUOPA), Principality of Asturias, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Rodríguez-Pombo P; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Molecular Disease Diagnostic Center (CEDEM), Department of Molecular Biology, Autonomous University of Madrid (UAM), Madrid, Spain.; Centre for Molecular Biology (CBMSO), Spanish National Research Council (CSIC), Madrid, Spain.; Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain., Fraga MF; Nanomaterials and Nanotechnology Research Centre (CINN-CSIC), Spanish National Research Council (CSIC), Principality of Asturias, Spain.; Health Research Institute of Asturias (ISPA), Foundation for Biomedical Research and Innovation in Asturias (FINBA), Principality of Asturias, Spain.; University Institute of Oncology of Asturias (IUOPA), Principality of Asturias, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Pérez B; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Molecular Disease Diagnostic Center (CEDEM), Department of Molecular Biology, Autonomous University of Madrid (UAM), Madrid, Spain.; Centre for Molecular Biology (CBMSO), Spanish National Research Council (CSIC), Madrid, Spain.; Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Dec 10. Date of Electronic Publication: 2024 Dec 10.