Pilar Rodríguez-Pombo
5PUBLICATIONS
25CO-AUTHORS
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Publications (5)
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|Jan 26, 2026
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.Alejandro Soriano-Sexto, Obdulia Sánchez-Lijarcio, Leonardo Beccari
|Mar 13, 2024
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.Laura Arribas-Carreira, Margarita Castro, Fernando García
|Jan 19, 2024
An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis.Juan Cruz Herrero Martín, Beñat Salegi Ansa, Gerardo Álvarez-Rivera
|Nov 11, 2022
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal
|Nov 06, 2019
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega
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Frequent Collaborators
3 joint publications
Belén Pérez
2 joint publications
María Luz Couce
2 joint publications
Alejandro Soriano-Sexto
2 joint publications
Patricia Alcaide
2 joint publications
Raquel Yahyaoui
1 joint publications
Isidro Vitoria
1 joint publications
Ricardo Ramos-Ruiz
1 joint publications
Miguel Ángel Martín
1 joint publications
Diana Gallego
1 joint publications
Pilar Quijada-Fraile
