Rodriguez Pombo, Pilar pr.pombo@uam.es
Publications
- Articles 73
- Books 1
- Book chapters 1
- Conferences 3
- Working papers 1
- Technical reports 0
- Research projects 8
- Supervised theses 5
- Patent or software license 0
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 Á
- 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 View at source
- ISSN 18735061
Candida albicans estrogen-binding protein gene encodes an oxidoreductase that is inhibited by estradiol
- Madani N
- Malloy P
- Rodriguez-Pombo P
- Krishnan A
- Feldman D
Proceedings Of The National Academy Of Sciences Of The United States Of America (p. 922-926) - 1/2/1994
- ISSN 10916490
- iMarina
A prenatal diagnosis of propionic acidemia
- Perez-Cerda, C
- Perez, B
- Merinero, B
- Desviat, LR
- Pombo, PR
- Ugarte, M;
Prenatal Diagnosis (p. 962-964) - 15/12/2004
10.1002/pd.1057 View at source
- ISSN 01973851
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria
- Richard, Eva
- Gallego-Villar, Lorena
- Rivera-Barahona, Ana
- Oyarzabal, Alfonso
- Perez, Belen
- Rodriguez-Pombo, Pilar
- Desviat, Lourdes R.;
Oxidative Medicine And Cellular Longevity - 1/1/2018
10.1155/2018/1246069 View at source
- ISSN 19420900
Thiamine transporter-2 deficiency: outcome and treatment monitoring
- Juan Darío Ortigoza-Escobar, Mercedes Serrano, Marta Molero, Alfonso Oyarzabal, Mónica Rebollo, Jordi Muchart, Rafael Artuch, Pilar Rodríguez-Pombo, Belén Pérez-Dueñas
Orphanet Journal Of Rare Diseases (p. 92-92) - 23/6/2014
10.1186/1750-1172-9-92 View at source
- ISSN 17501172
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, N.P.
- 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 View at source
- ISSN 17501172
- ISSN/ISBN 1750-1172
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
- Brasil, Sandra
- Leal, Fatima
- Vega, Ana
- Navarrete, Rosa
- Jesus Ecay, Maria
- Desviat, Lourdes R.
- Riera, Casandra
- Padilla, Natalia
- de la Cruz, Xavier
- Luz Couce, Mari
- Martin-Hernandez, Elena
- Morais, Ana
- Pedron, Consuelo
- Pena-Quintana, Luis
- Rigoldi, Miriam
- Specola, Norma
- Tavares de Almeida, Isabel
- Vives, Inmaculada
- Yahyaoui, Raquel
- Rodriguez-Pombo, Pilar
- Ugarte, Magdalena
- Perez-Cerda, Celia
- Merinero, Begona
- Perez, Belen;
Orphanet Journal Of Rare Diseases - 24/7/2018
10.1186/s13023-018-0862-y View at source
- ISSN 17501172
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
- Rice G.I., Kitabayashi N., Barth M., Briggs T.A., Burton A.C.E., Carpanelli M.L., Cerisola A.M., Colson C., Dale R.C., Danti F.R., Darin N., De Azua B., De Giorgis V., De Goede C.G.L., Desguerre I., De Laet C., Eslahi A., Fahey M.C., Fallon P., Fay A., Fazzi E., Gorman M.P., Gowrinathan N.R., Hully M., Kurian M.A., Leboucq N., Lin J.P.S.M., Lines M.A., Mar S.S., Maroofian R., Martí-Sanchez L., McCullagh G., Mojarrad M., Narayanan V., Orcesi S., Ortigoza-Escobar J.D., Pérez-Dueñas B., Petit F., Ramsey K.M., Rasmussen M., Rice G.I., Kitabayashi N., Barth M., Briggs T.A., Burton A.C.E., Carpanelli M.L., Cerisola A.M., Colson C., Dale R.C., Danti F.R., Darin N., De Azua B.
Neuropediatrics (p. 166-184) - 1/6/2017
10.1055/s-0037-1601449 View at source
- ISSN 0174304X
ATYPICAL NONKETOTIC HYPERGLYCINEMIA WITH A DEFECTIVE GLYCINE TRANSPORT-SYSTEM IN NERVOUS-TISSUE
- Rodriguez Pombo, Pilar
- Mayor, F
- Martin, A
- Rodriguezpombo, P
- Garcia, MJ
- Benavides, J
- Ugarte, M
Neurochemical Pathology (p. 233-249) - 1/12/1984
- ISSN 0734600X
- iMarina
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease
- Pérez B, Rodríguez-Pombo P, Ugarte M, Desviat LR
Molecular Syndromology (p. 230-6) - 1/11/2012
10.1159/000343086 View at source
- ISSN 16618769
THE GENOTYPIC SPECTRUM OF CLASSIC NONKETOTIC HYPERGLYCINEMIA DUE TO MUTATIONS IN GLDC AND AMT
- Coughlin, Curtis, II
- Swanson, Michael
- Kronquist, Kathryn
- Acquaviva, Cecile
- Hutchin, Tim
- Rodriguez-Pombo, Pilar
- Kure, Shigeo
- Vaisanen, Marja-Leena
- Spector, Elaine
- Creadon-Swindell, Geralyn
- Bras-Goldberg, Ana
- Rahikkala, Elisa
- Moilanen, Jukka
- Mahieu, Vincent
- Matthijs, Gert
- Bravo-Alonso, Irene
- Perez-Cerda, Celia
- Ugarte, Magdalena
- Vinaey-Saban, Christine
- Scharer, Gunter
- Van Hove, Johan;
Molecular Genetics And Metabolism (p. 236-236) - 1/1/2016
- ISSN 10967192
- iMarina
CLINICAL AND GENETIC VARIABILITY IN NON-KETOTIC HYPERGLYCINEMIA (NKH)
- Ugarte Perez, Magdalena
- Rodriguez Pombo, Pilar
- Perez-Cerda, C
- Navarrete, R
- Sanz, P
- Garcia Munoz, F
- Rodriguez-Pombo, P
Journal Of Inherited Metabolic Disease (p. S83-S83) - 1/1/2011
- ISSN 01418955
- iMarina
Roles of branched-chain amino acids regulation in oxidative stress revealed by fibroblasts from classic Maple Syrup Urine Disease patients
- Guerra, Paula Fernandez
- Cheng, Lei
- Fenton, Robert A.
- Bross, Peter
- Rodriguez Pombo, Pilar
- Palmfeldt, Johan;
Free Radical Biology And Medicine (p. S68-S69) - 1/7/2017
10.1016/j.freeradbiomed.2017.04.234 View at source
- ISSN 08915849
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis
- Ugarte Perez, Magdalena
- Rodriguez Pombo, Pilar
- Richard Rodriguez, Eva Maria
- Perez-Cerda, C
- Merinero, B
- Marti, M
- Cabrera, JC
- Cabrera, J C
- Pena, L
- Garcia, MJ
- Garcia, M J
- Gangoiti, J
- Sanz, P
- Hoenicka, J
- Muro, S
European Journal Of Pediatrics (p. 50-52) - 1/4/1998
- ISSN 03406199
- iMarina
This researcher has no technical reports.
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)
- Gamez Abascal, Maria 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)
Period: 01-01-2020 - 31-12-2022
Type of funding: National
Amount of funding: 244420,00 Euros.
- 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))
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
Enfermedades metabólicas hereditarias: avances en diagnóstico clínico, bioquímico y genético.
- 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)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Ugarte Perez, Magdalena (Investigador principal (IP))
Period: 01-01-2006 - 31-12-2006
- iMarina
Enfermedades neurometabólicas hereditarias: avances en el diagnóstico, la patofisiología y desarrollo de terapias dirigidas a estabilizar proteínas
- Gamez Abascal, Maria Alejandra (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- Arduim Brasil, Sandra Dolores (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Period: 01-01-2017 - 31-12-2019
Type of funding: National
Amount of funding: 212052,50 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))
Period: 01-01-2013 - 31-12-2015
- iMarina
Nuevas aproximaciones terapeuticas en el tratamiento de jarabe de arce
- Pedro Ruiz Sala (Investigador/a)
- Ugarte Perez, Magdalena (Investigador/a)
- Celia Perez Cerda (Investigador/a)
- Ascension Sanchez de la Chica (Investigador/a)
- Gamez Abascal, Maria Alejandra (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador principal (IP))
Period: 01-01-2009 - 31-12-2011
- 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
Caracterización genética de la Acidosis Láctica Congénita: Un ejemplo de análisis integral de una enfermedad rara
- Pilar Rodríguez Pombo (Director)
- María Belén Pérez González (Director) Doctorando: Bravo Alonso, Irene
10/9/2021
- iMarina
Contributions of lymphatic vessels to the regulation of skin stem cells in physiology and cancer
- Pérez Moreno, Mirna (Director)
- Rodriguez Pombo, Pilar (Tutor) Doctorando: Peña Jiménez, Daniel
7/6/2019
- iMarina
Gene editing mediated by non-homologous end-joining : a versatile approach for the gene therapy of hematopoietic stem cells from fanconi anemia patients
- Río Galdo, Paula (Director)
- Bueren Roncero, Juan Antonio (Director)
- Rodriguez Pombo, Pilar (Tutor) Doctorando: Román Rodríguez, Francisco José
27/11/2018
- iMarina
Dissecting the role of Gadd45b in hepatocellular carcinoma development
- Salvador Sánchez, Jesús María (Director)
- Rodriguez Pombo, Pilar (Tutor) Doctorando: Rosato, Umberto
21/4/2017
- iMarina
This researcher has no patents or software licenses.
Research groups
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