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Author profile at the institutional portal

Rodriguez Pombo, Pilar pr.pombo@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

  • Vega AI, Medrano C, Navarrete R, Desviat LR, Merinero B, Rodríguez-Pombo P, Vitoria I, Ugarte M, Pérez-Cerdá C, Pérez B

Genetics In Medicine (p. 1037-1043) - 1/10/2016

10.1038/gim.2015.217 View at source

  • ISSN 10983600

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

  • Oyarzabal A, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P

Biochimica Et Biophysica Acta. Molecular Basis Of Disease (p. 592-600) - 1/4/2016

10.1016/j.bbadis.2016.01.016 View at source

  • ISSN 09254439

Ndufs4 related Leigh syndrome: A case report and review of the literature

  • Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B

Mitochondrion (p. 73-78) - 1/5/2016

10.1016/j.mito.2016.04.001 View at source

  • ISSN 15677249

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

  • Bravo-Alonso I
  • Oyarzabal A
  • Sánchez-Aragó M
  • Rejas MT
  • Merinero B
  • García-Cazorla A
  • Artuch R
  • Ugarte M
  • Rodríguez-Pombo P
... View more Collapse

Data In Brief (p. 755-759) - 1/6/2016

10.1016/j.dib.2016.03.038 View at source

  • ISSN 23523409

Treatment of genetic defects of thiamine transport and metabolism

  • Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B

Expert Review Of Neurotherapeutics (p. 755-763) - 2/7/2016

10.1080/14737175.2016.1187562 View at source

  • ISSN 14737175

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

  • Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B

Clinical Genetics (p. 252-257) - 1/9/2016

10.1111/cge.12751 View at source

  • ISSN 00099163

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

  • Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL

Genetics In Medicine (p. 104-111-111) - 1/1/2017

10.1038/gim.2016.74

  • ISSN 10983600
  • iMarina

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

  • Bravo-Alonso I
  • Navarrete R
  • Arribas-Carreira L
  • Perona A
  • Abia D
  • Couce M
  • García-Cazorla A
  • Morais A
  • Domingo R
  • Ramos M
  • Swanson M
  • Van Hove J
  • Ugarte M
  • Pérez B
  • Pérez-Cerdá C
  • Rodríguez-Pombo P
... View more Collapse

Human Mutation (p. 678-691-691) - 1/6/2017

10.1002/humu.23208 View at source

  • ISSN 10597794

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

Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors

  • Ortigoza-Escobar, Juan Dario
  • Alfadhel, Majid
  • Molero-Luis, Marta
  • Darin, Niklas
  • Spiegel, Ronen
  • de Coo, Irenaeus F.
  • Gerards, Mike
  • Taylor, Robert W.
  • Artuch, Rafael
  • Nashabat, Marwan
  • Rodriguez-Pombo, Pilar
  • Tabarki, Brahim
  • Perez-Duenas, Belen;Thiamine Deficiency Study Grp
... View more Collapse

Annals Of Neurology (p. 317-330) - 1/9/2017

10.1002/ana.24998 View at source

  • ISSN 03645134

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

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

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

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.

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

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

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 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

(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

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

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

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

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

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

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

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

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

This researcher has no patents or software licenses.

Last data update: 4/24/24 1:18 PM