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Author profile at the institutional portal

Rodriguez Pombo, Pilar pr.pombo@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

Hipertensión pulmonar grave: forma de comienzo de un nuevo defecto del metabolismo del ácido lipoico

  • Rodriguez Pombo, Pilar

Medicina Clinica - 1/1/2014

  • ISSN 00257753
  • iMarina

Severe pulmonary hypertension: Initial manifestation of a new deficiency of the lipoic acid metabolism

  • Lacasa Maseri, Andrea
  • Yun Castilla, Cristina
  • Mota Ybancos, Jose Luis
  • Rodriguez-Pombo, Pilar;

Medicina Clinica (p. 423-424) - 7/11/2014

10.1016/j.medcli.2013.12.014 View at source

  • ISSN 00257753

Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT

  • Sempere, Angela
  • Fons, Carme
  • Arias, Angela
  • Rodríguez Pombo, Pilar
  • Merinero, B
  • Alcaide, Patricia
  • Capdevila, Antoni
  • Ribes, Antonia
  • Duque, Rosario
  • Eirís Puñal, Jesús
  • Poo, Pilar
  • Fernández Álvarez, Emilio
  • Campistol Plana, Jaume
  • Artuch Iriberri, Rafael
... View more Collapse

Medicina Clinica (p. 745-749) - 21/11/2009

10.1016/j.medcli.2009.06.065 View at source

  • ISSN 00257753

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

  • Musokhranova U
  • Grau C
  • Vergara C
  • Rodríguez-Pascau L
  • Xiol C
  • Castells AA
  • Alcántara S
  • Rodríguez-Pombo P
  • Pizcueta P
  • Martinell M
  • García-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

BIOTIN TRANSPORT IN PRIMARY CULTURE OF ASTROCYTES - EFFECT OF BIOTIN DEFICIENCY

  • RODRIGUEZPOMBO, P
  • UGARTE, M;

Journal Of Neurochemistry (p. 1460-1463) - 1/1/1992

10.1111/j.1471-4159.1992.tb11364.x View at source

  • ISSN 00223042

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia

  • Muro S., Pérez-Cerdá C., Rodríguez-Pombo P., Pérez B., Briones P., Ribes A., Ugarte M.

Journal Of Medical Genetics (p. 412-414) - 22/5/1999

  • ISSN 00222593
  • iMarina

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

  • ISSN 01418955
  • iMarina

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 S
  • Perveen R
  • Preece M
  • Rogers Y
  • Treacy E
  • Mayne P
  • Zampino G
  • MacKinnon S
  • Wassmer E
  • Yue W
  • Robinson I
  • Rodríguez-Pombo P
  • Olpin S
  • 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

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

  • Perez, Belen
  • Angaroni, Celia
  • Sanchez-Alcudia, Rocio
  • Merinero, Begona
  • Perez-Cerda, Celia
  • Specola, N.
  • Rodriguez-Pombo, P.
  • Wajner, Moacir
  • Dodelson de Kremer, Raquel
  • Cornejo, Veronica
  • Desviat, Lourdes R.
  • Ugarte, Magdalena;
... View more Collapse

Journal Of Inherited Metabolic Disease (p. S307-S314) - 1/1/2010

10.1007/s10545-010-9116-4 View at source

  • ISSN 01418955

Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: An approach to the determination of the beta-propionyl-CoA carboxylase functional domains

  • Muro, S
  • Perez, B
  • Rodriguez-Pombo, P
  • Desviat, LR
  • Perez-Cerda, C
  • Ugarte, M;

Journal Of Inherited Metabolic Disease (p. 300-304) - 27/6/2000

10.1023/a:1005617420460 View at source

  • ISSN 01418955

Castillos de paja: [exposición]

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

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

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;
... View more Collapse

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
... View more Collapse

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
... View more Collapse

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

10.1007/s004310050765

  • 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)
... View more Collapse

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))
... 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

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))
... View more Collapse

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))
... View more Collapse

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

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: 4/24/24 1:18 PM