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Author profile at the institutional portal

Rodriguez Pombo, Pilar pr.pombo@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

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
... View more Collapse

Journal Of Inherited Metabolic Disease - 1/1/2025

10.1002/jimd.12829 View at source

  • 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
... View more Collapse

BRAIN (p. 3003-3013) - 23/3/2023

36729635 View at source

  • 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
... View more Collapse

Journal Of Inherited Metabolic Disease (p. 261-272) - 1/3/2023

10.1002/jimd.12584 View at source

  • 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
... View more Collapse

Journal Of Translational Medicine - 1/12/2023

10.1186/s12967-023-04622-5 View at source

  • 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
... View more Collapse

Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 1/9/2022

10.1016/j.bbadis.2022.166433 View at source

  • 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
... View more Collapse

Orphanet Journal Of Rare Diseases - 1/12/2022

Editor: BioMed Central Ltd

10.1186/s13023-022-02389-4 View at source

  • 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
... View more Collapse

International Journal Of Molecular Sciences - 1/11/2022

10.3390/ijms232112850 View at source

  • 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
... View more Collapse

Genes - 1/10/2021

34680984 View at source

  • 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
... View more Collapse

Journal Of Inherited Metabolic Disease (p. 809-817) - 1/9/2019

10.1002/jimd.12135 View at source

  • 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
... View more Collapse

Stem Cell Research - 1/8/2019

10.1016/j.scr.2019.101503 View at source

  • ISSN 18735061

Castillos de paja: [exposición]

  • Rodríguez Pombo, Pilar
  • Molina, César Antonio
  • Fundación Antonio Pérez

(p. - ) - 1/1/2006

  • iMarina

Mitochondrial organic acidurias. Part II: Mitochondrial dysfunction

  • Richard, Eva
  • Rodríguez Pombo, Pilar
  • Ruiz Desviat, Lourdes
  • Pérez González, María Belén
  • Merinero, B
  • Pérez-Cerdá, Celia
  • Ugarte Pérez, Magdalena
... View more Collapse

Mitochondrial Pathophysiology (p. 173,191-191) - 1/1/2011

  • iMarina

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
... View more Collapse

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
... View more Collapse

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
... View more Collapse

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
... View more Collapse

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 View at source

  • 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
... View more Collapse

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
... View more Collapse

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
... View more Collapse

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
... View more Collapse

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
... View more Collapse

European Journal Of Pediatrics (p. 50-52) - 1/4/1998

10.1007/s004310050765 View at source

  • ISSN 03406199

This researcher has no technical reports.

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)

Period: 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)
... View more Collapse

Period: 01-01-2020 - 31-12-2022

Type of funding: National

Amount of funding: 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))
... View more Collapse

Period: 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))
... View more Collapse

Period: 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))

Period: 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))

Period: 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)
... View more Collapse

Period: 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

Del gen a la patofisiología: Nuevas enfermedades asociadas al catabolismo de los aminoácidos ramificados

  • Rodriguez Pombo, Pilar (Director) Doctorando: Oyarzábal Sanz, Alfonso Luis De

14/6/2016

  • iMarina

This researcher has no patents or software licenses.

Last data update: 7/31/26 10:53 PM