Rodriguez Pombo, Pilar pr.pombo@uam.es
Actividades
- Artículos 66
- Libros 1
- Capítulos de libro 1
- Congresos 16
- Documentos de trabajo 1
- Informes técnicos 0
- Proyectos de investigación 7
- Tesis dirigidas 4
- Patentes o licencias de software 0
Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease
- Tejedor, JR
- Soriano-Sexto, A
- Beccari, L
- Castejón-Fernández, N
- Correcher, P
- Sainz-Ledo, L
- Alba-Linares, JJ
- Urdinguio, RG
- Ugarte, M
- Fernández, AF
- Rodríguez-Pombo, P
- Fraga, MF
- Pérez, B
Journal Of Inherited Metabolic Disease - 1/1/2025
10.1002/jimd.12829 Ver en origen
- ISSN 01418955
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
- Tangeraas, T
- Constante, JR
- Backe, PH
- Oyarzábal, A
- Neugebauer, J
- Weinhold, N
- Boemer, F
- Debray, FG
- Ozturk-Hism, B
- Evren, G
- Tuba, EF
- Ummuhan, O
- Footitt, E
- Davison, J
- Martinez, C
- Bueno, C
- Machado, I
- Rodríguez-Pombo, P
- Al-Sannaa, N
- de los Santos, M
- López, JM
- Ozturkmen-Akay, H
- Karaca, M
- Tekin, M
- Pajares, S
- Ormazabal, A
- Stoway, SD
- Artuch, R
- Dixon, M
- Morkrid, L
- García-Cazorla, A
BRAIN (p. 3003-3013) - 23/3/2023
- ISSN 14602156
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase (PPCDC) cause autosomal-recessive dilated cardiomyopathy
- Bravo-Alonso, I
- Morin, M
- Arribas-Carreira, L
- Alvarez, M
- Pedrón-Giner, C
- Soletto, L
- Santolaria, C
- Ramón-Maiques, S
- Ugarte, M
- Rodríguez-Pombo, P
- Ariño, J
- Moreno-Pelayo, MA
- Pérez, B
Journal Of Inherited Metabolic Disease (p. 261-272) - 1/3/2023
10.1002/jimd.12584 Ver en origen
- ISSN 01418955
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome
- Musokhranova, U
- Grau, C
- Vergara, C
- Rodriguez-Pascau, L
- Xiol, C
- Castells, AA
- Alcantara, S
- Rodríguez-Pombo, P
- Pizcueta, P
- Martinell, M
- Garcia-Cazorla, A
- Oyarzábal, A
Journal Of Translational Medicine - 1/12/2023
10.1186/s12967-023-04622-5 Ver en origen
- ISSN 14795876
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of
- Briso-Montiano, A
- Vilas, A
- Richard, E
- Ruiz-Sala, P
- Morato, E
- Desviat, LR
- Ugarte, M
- Rodriguez-Pombo, P
- Perez, B
Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 1/9/2022
10.1016/j.bbadis.2022.166433 Ver en origen
- ISSN 09254439
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature
- Stanescu, S
- Bravo-Alonso, I
- Belanger-Quintana, A
- Pérez, B
- Medina-Diaz, M
- Ruiz-Sala, P
- Flores, NP
- Buenache, R
- Arrieta, F
- Rodríguez-Pombo, P
Orphanet Journal Of Rare Diseases - 1/12/2022
Editor: BioMed Central Ltd
10.1186/s13023-022-02389-4 Ver en origen
- ISSN 17501172
- ISSN/ISBN 1750-1172
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
- Soriano-Sexto, A
- Gallego, D
- Leal, F
- Castejón-Fernández, N
- Navarrete, R
- Alcaide, P
- Couce, ML
- Martín-Hernández, E
- Quijada-Fraile, P
- Peña-Quintana, L
- Yahyaoui, R
- Correcher, P
- Ugarte, M
- Rodríguez-Pombo, P
- Pérez, B
International Journal Of Molecular Sciences - 1/11/2022
10.3390/ijms232112850 Ver en origen
- ISSN 14220067
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
- Bellusci, M
- Paredes-Fuentes, AJ
- Ruiz-Pesini, E
- Gomez, B
- Martin, MA
- Montoya, J
- Artuch, R
- Grp
Genes - 1/10/2021
- ISSN 20734425
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency
- Knerr, I
- Colombo, R
- Urquhart, J
- Morais, A
- Merinero, B
- Oyarzabal, A
- Pérez, B
- Jones, SA
- Perveen, R
- Preece, MA
- Rogers, Y
- Treacy, EP
- Mayne, P
- Zampino, G
- MacKinnon, S
- Wassmer, E
- Yue, WW
- Robinson, I
- Rodríguez-Pombo, P
- Olpin, SE
- Banka, S
Journal Of Inherited Metabolic Disease (p. 809-817) - 1/9/2019
10.1002/jimd.12135 Ver en origen
- ISSN 01418955
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene
- Arribas-Carreira, L
- Bravo-Alonso, I
- López-Márquez, A
- Alonso-Barroso, E
- Briso-Montiano, A
- Arroyo, I
- Ugarte, M
- Pérez, B
- Pérez-Cerdá, C
- Rodríguez-Pombo, P
- Richard, E
Stem Cell Research - 1/8/2019
10.1016/j.scr.2019.101503 Ver en origen
- ISSN 18735061
New genomic rearrangements identified in genes associated to inborn errors of metabolism
- Castejon-Fernandez, N
- Bravo-Alonso, I
- Navarrete, R
- Leal, F
- Ugarte, M
- Rodriguez-Pombo, P
- Perez, B
EUROPEAN JOURNAL OF HUMAN GENETICS (p. 617-617) - 1/12/2020
- ISSN 10184813
- iMarina
What is beyond the congenital lactic acidosis? From variants to personalized medicine
- Bravo-Alonso, I
- Navarrete, R
- Ruiz-Sala, P
- Leal, F
- Ugarte, M
- Perez-Cerda, C
- Merinero, B
- Perez, B
- Rodriguez-Pombo, P
EUROPEAN JOURNAL OF HUMAN GENETICS (p. 291-291) - 1/12/2020
- ISSN 10184813
- iMarina
Mendeliome massive-parallel sequencing reveals a Primary CoQ10-deficiency in two patients with severe encephalopathy and lactic acidosis
- Bravo-Alonso, I
- Vega, A
- Navarrete, R
- Ruíz-Sala, P
- García-Silva, M
- Blázquez, A
- Martín, M
- Merinero, B
- Pérez-Cerdá, C
- Ugarte, M
- Pérez, B
- Rodríguez-Pombo, P
EUROPEAN JOURNAL OF HUMAN GENETICS (p. 309-310) - 1/10/2018
- ISSN 10184813
- iMarina
Improving the diagnosis of cobalamin and related defects by genomic analysis and functional and structural assessment of the variants identified
- Brasil, S
- Leal, F
- Vega, A
- Rodriguez-Pombo, P
- Desviat, L R
- Ugarte, M
- Perez-Cerda, C
- Merinero, B
- Perez, B
EUROPEAN JOURNAL OF HUMAN GENETICS (p. 288-288) - 1/10/2018
- ISSN 10184813
- iMarina
Roles of branched-chain amino acids regulation in oxidative stress revealed by fibroblasts from classic Maple Syrup Urine Disease patients
- Guerra, PF
- Cheng, L
- Fenton, RA
- Bross, P
- Pombo, PR
- Palmfeldt, J
Free Radical Biology And Medicine (p. S68-S69) - 1/7/2017
10.1016/j.freeradbiomed.2017.04.234 Ver en origen
- ISSN 08915849
THE GENOTYPIC SPECTRUM OF CLASSIC NONKETOTIC HYPERGLYCINEMIA DUE TO MUTATIONS IN GLDC AND AMT
- Coughlin, C
- Swanson, M
- Kronquist, K
- Acquaviva, C
- Hutchin, T
- Rodriguez-Pombo, P
- Kure, S
- Vaisanen, ML
- Spector, E
- Creadon-Swindell, G
- Bras-Goldberg, A
- Rahikkala, E
- Moilanen, J
- Mahieu, V
- Matthijs, G
- Bravo-Alonso, I
- Perez-Cerda, C
- Ugarte, M
- Vinaey-Saban, C
- Scharer, G
- Van Hove, J
Molecular Genetics And Metabolism (p. 236-236) - 1/1/2016
- ISSN 10967192
- iMarina
CLINICAL PHENOTYPE OF 22 SPANISH PATIENTS WITH MUTATIONS IN NFU-1
- del Toro, M
- Gonzalez-Gutierrez Solana, L
- Garcia-Cazorla, M A
- Campistol, J
- Dorao, P
- Labayru, M T
- Aldamiz, L
- Sanjurjo, P
- de Castro, P
- Labanda, J
- Lara, J
- Martin del Valle, F
- Vaquerizo, J
- Tort, F
- Navarro-Sastre, A
- Arranz, J A
- Riudor, E
- Rodriguez-Pombo, P
- Perez-Cerda, C
- Briones, P
- Ribes, A
- Roig, M
Journal Of Inherited Metabolic Disease (p. S13-S13) - 1/1/2012
- ISSN 01418955
- iMarina
CLINICAL AND GENETIC VARIABILITY IN NON-KETOTIC HYPERGLYCINEMIA (NKH)
- Pérez-Cerdá, C
- Navarrete, R
- Sanz, P
- Muñoz, FG
- Rodriguez-Pombo, P
- Ugarte, M
Journal Of Inherited Metabolic Disease (p. S83-S83) - 1/1/2011
- ISSN 01418955
- iMarina
Wernicke encephalopathy in classic maple syrup urine disease (MSUD) decompensation
- Del Rizzo, M D R
- Manara, R M
- Burlina, A P B
- Bordugo, A B
- Zanco, C Z
- Rodriguez-Pombo, P R P
- Ugarte, M U
- Burlina, A B B
Journal Of Inherited Metabolic Disease (p. S77-S77) - 1/1/2011
- ISSN 01418955
- iMarina
Identification of a new case of creatine transport defect by determining urine creatine and guanidinoacetic acid in children with suspected metabolic disorder
- Rodriguez-Pombo, P
- Alcaide, P
- Ferrer, I
- Ruiz Sala, P
- Castro, P
- Ugarte, M
- Merinero, B
Journal Of Inherited Metabolic Disease (p. 127-127) - 1/8/2007
- ISSN 01418955
- iMarina
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis
- Pérez-Cerdá, C
- Merinero, B
- Martí, M
- Cabrera, JC
- Peña, L
- García, MJ
- Gangoiti, J
- Sanz, P
- Rodríguez-Pombo, P
- Hoenicka, J
- Richard, E
- Muro, S
- Ugarte, M
European Journal Of Pediatrics (p. 50-52) - 1/4/1998
10.1007/s004310050765 Ver en origen
- ISSN 03406199
Este/a investigador/a no tiene informes técnicos.
Increasing diagnosis rates and developing therapeutic strategies for inborn errors of metabolism via the genomic, transcriptomic, epigenomic and functional analysis of patients and models
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
- Rodriguez Pombo, Pilar (Investigador principal (IP))
- Gámez Abascal, Alejandra (Investigador/a)
Ejecución: 01-01-2023 - 01-01-2026
- iMarina
Enfoque Cross-Omico para el descubrimiento de la base genética de errores innatos del metabolismo y para una intervencion terapeutica personalizada
- SEGOVIA FALQUINA, CRISTINA (Investigador/a)
- RUIZ SALA, PEDRO (Investigador/a)
- Gámez Abascal, Alejandra (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
- LEAL PEREZ, M FATIMA (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- VILAS LAGOA, ALICIA (Investigador/a)
- VEGA PAJARES, ANA ISABEL (Investigador/a)
- BRAVO ALONSO, IRENE (Investigador/a)
- ARRIBAS CARREIRA, LAURA (Investigador/a)
- GALLEGO MARTINEZ, DIANA (Investigador/a)
- NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
Ejecución: 01-01-2020 - 31-12-2022
Tipo: Nacional
Importe financiado: 244420,00 Euros.
- iMarina
Identificación de pacientes con mutaciones en genes implicados en la biosístesis y transporte de cofactores del metabolismo energético mitocondrial.
- Alfonso Luis de Oyarzabal Sanz (Investigador/a)
- Alfonso Luis Oyarzabal Sanz (Investigador/a)
- Pedro Ruiz Sala (Investigador/a)
- Isaac Ferrer Lopez (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Ascension Sanchez de la Chica (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador principal (IP))
Ejecución: 01-01-2013 - 31-12-2015
- iMarina
(Grupo CAMIT)
- Cuezva Marcos, Jose Manuel (Investigador principal (IP))
- Garesse Alarcon, Rafael (Investigador principal (IP))
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
- Sanchez Cenizo, Laura (Investigador/a)
- Garcia Bermudez, Javier (Investigador/a)
- Laura Formentini (Investigador/a)
- Margarita Chamorro Bello (Investigador/a)
- Willers, Imke María (Investigador/a)
- Cristina Nuñez de Arenas Flores (Investigador/a)
- Maria Sanchez Arago (Investigador/a)
- Inmaculada Martinez Reyes (Investigador/a)
- Fulvio Santacatterina (Investigador/a)
- Paula Martinez Valero (Investigador/a)
- Paloma Gonzalez Sanchez (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Celia Perez Cerda (Investigador/a)
- Pedro Ruiz Sala (Investigador/a)
- Ugarte Perez, Magdalena (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador/a)
- Sandra Dolores Arduim Brasil (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- Gallego Villar, Lorena (Investigador/a)
- Alfonso Luis de Oyarzabal Sanz (Investigador/a)
- Satrustegui Gil Delgado, Jorgina (Investigador principal (IP))
Ejecución: 01-01-2012 - 31-12-2015
- iMarina
Bases moleculares de acidurias orgánicas en serbia
- Kristel Klaassen (Investigador/a)
- Sonja Pavlovic (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Ejecución: 12-01-2011 - 12-01-2013
- iMarina
Bases moleculares de los defectos congénitos de glicosilación (CDG) Aplicación de nuevas herramientas para la caracterización bioquímica y genética de defectos en la glicosilación de proteínas.
- Maria Jesus Ecay Crespo (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- Isaac Ferrer Lopez (Investigador/a)
- Fernando Garcia Muñoz (Investigador/a)
- Fatima Leal Perez (Investigador/a)
- Celia Perez Cerda (Investigador principal (IP))
Ejecución: 01-01-2008 - 31-12-2010
- iMarina
Enfermedades metabólicas hereditarias: avances en diagnóstico clínico, bioquímico y genético.
- Perez Gonzalez, Maria Belen (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Ugarte Perez, Magdalena (Investigador principal (IP))
- Rodriguez Pombo, Pilar (Investigador/a)
- Pedro Ruiz Sala (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador/a)
- Celia Perez Cerda (Investigador/a)
Ejecución: 01-01-2006 - 31-12-2006
- iMarina
Implicaciones del metabolismo de la glicina en la salud y la enfermedad humana: Hiperglicinemia no Cetósica, una enfermedad con fenotipo clínico neurológico
- Rodriguez Pombo, Pilar (Director) Doctorando: ARRIBAS CARREIRA, LAURA
19/6/2023
- iMarina
New horizons in peritoneal dialysis: assessment of novel osmotic agents and evaluation of associated cardiovascular disease
- Lopez Cabrera, Manuel (Director)
- González Mateo, Guadalupe (Director)
- Rodriguez Pombo, Pilar (Tutor) Doctorando: Kopytina, Valeria
26/5/2023
- iMarina
Dissecting the role of Gadd45b in hepatocellular carcinoma
- Salvador Sánchez, Jesús María (Director)
- Rodriguez Pombo, Pilar (Tutor) Doctorando: Rosato, Umberto
21/4/2017
- iMarina
Este/a investigador/a no tiene patentes o licencias de software.
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