Perez Gonzalez, Maria Belen belen.perez@uam.es
Actividades
- Artículos 217
- Libros 0
- Capítulos de libro 7
- Congresos 13
- Documentos de trabajo 5
- Informes técnicos 0
- Proyectos de investigación 20
- Tesis dirigidas 24
- Patentes o licencias de software 1
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry
- Martin-Hernandez, Elena
- Bellusci, Marcello
- Perez-Mohand, Patricia
- Medina, Patricia Correcher
- Blasco-Alonso, Javier
- Morais-Lopez, Ana
- de las Heras, Javier
- Olivas, Silvia Maria Meavilla
- Dougherty-de Miguel, Lucy
- Couce, Maria Luz
- Villarroya, Elvira Canedo
- Jimenez, Maria Concepcion Garcia
- Moreno-Lozano, Pedro Juan
- Vives, Inmaculada
- Gil-Campos, Mercedes
- Stanescu, Sinziana
- Ceberio-Hualde, Leticia
- Camprodon, Maria
- Cortes-Saladelafont, Elisenda
- Lopez-Urdiales, Rafael
- Hurtado, Mercedes Murray
- Armenteros, Ana Maria Marquez
- Corcoles, Concha Sierra
- Pena-Quintana, Luis
- Ruiz-Pons, Monica
- Alcalde, Carlos
- Castellanos-Pinedo, Fernando
- Dios, Elena
- Barrio-Carreras, Delia
- Martin-Cazana, Maria
- Garcia-Peris, Monica
- Andrade, Jose David
- Garcia-Volpe, Camila
- de los Santos, Mariela
- Garcia-Cazorla, Angels
- del Toro, Mireia
- Felipe-Rucian, Ana
- Monroy, Maria Jose Comino
- Sanchez-Pintos, Paula
- Matas, Ana
- Ortega, David Gil
- Martin-Rivada, Alvaro
- Bergua, Ana
- Belanger-Quintana, Amaya
- Vitoria, Isidro
- Yahyaoui, Raquel
- Perez, Belen
- Morales-Conejo, Montserrat
- Quijada-Fraile, Pilar
Nutrients - 28/3/2025
10.3390/nu17071173 Ver en origen
- ISSN 20726643
Unraveling the biological potential of skin fibroblast: responses to TNF-α, highlighting intracellular signaling pathways and secretome
- Pascoal, Carlota
- Granjo, Pedro
- Mexia, Patricia
- Gallego, Diana
- Lourenco, Rita Adubeiro
- Sharma, Shally
- Perez, Belen
- Castro-Caldas, Margarida
- Grosso, Ana Rita
- Ferreira, Vanessa dos Reis
- Videira, Paula Alexandra
IMMUNOLOGY LETTERS - 1/12/2025
- ISSN 01652478
- iMarina
Clinical characteristics and management of Spanish adult patients with phenylketonuria
- Olmos, M A Martinez
- Moreno, E Venegas
- Conejo, M Morales
- Hualde, L Ceberio
- Perez, B
- Forga, M de Tallo
- Perez-Sadaba, F J
- Medina, P Correcher
REVISTA CLINICA ESPANOLA (p. 502356-502356) - 25/10/2025
- ISSN 15781860
The Spanish Polygenic Score reference distribution: a resource for personalized medicine
- Carmona R
- Roldán G
- Fernández-Rueda JL
- Navarro A
- Peña-Chilet M
- Surrallés J
- Rosell J
- Ribes A
- Lopez E
- Ramos F
- Pujol A
- Perona R
- Perez B
- Palau F
- Nunes V
- García D
- Mulero V
- Morte B
- Fernández-Cancio M
- Moreno-Galdó A
- Morin M
- Moreno MA
- Millán JM
- Rovira E
- Martí R
- Gallego-Martinez A
- Lopez-Escámez JA
- Lapunzina P
- Guillén E
- Grinberg D
- Espinos C
- Delmiro A
- Tejada I
- Castaño LA
- Amigo J
- Carracedo A
- Antiñolo G
- Borrego S
- Artuch R
- Corton M
- Avila-Fernandez A
- Minguez P
- Ayuso C
- Bostelmann G
- Perez-Florido J
- Aquino V
- Pasalodos-Sanchez S
- Salgado-Garrido J
- Alonso A
- Dopazo J
- López-López D
European Journal Of Human Genetics - 1/1/2025
- ISSN 10184813
Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease
- Tejedor, Juan Ramon
- Soriano-Sexto, Alejandro
- Beccari, Leonardo
- Castejon-Fernandez, Natalia
- Correcher, Patricia
- Sainz-Ledo, Lidia
- Alba-Linares, Juan Jose
- Urdinguio, Rocio G
- Ugarte, Magdalena
- Fernandez, Agustin F
- Rodriguez-Pombo, Pilar
- Fraga, Mario F
- Perez, Belen
Journal Of Inherited Metabolic Disease - 1/1/2025
- ISSN 01418955
- iMarina
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation
- Vilas, A.
- Briso-Montiano, Á
- Segovia-Falquina, C.
- Martín-Martínez, A.
- Soriano-Sexto, A.
- Gallego, D.
- Ruiz-Montes, V.
- Gámez, A.
- Pérez, B.
Molecular Genetics And Metabolism - 1/9/2024
10.1016/j.ymgme.2024.108538 Ver en origen
- ISSN 10967192
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
- Martínez-Pizarro A
- Picó S
- López-Márquez A
- Rodriguez-López C
- Montalvo E
- Alvarez M
- Castro M
- Ramón-Maiques S
- Pérez B
- Lucas JJ
- Richard E
- Desviat LR
Human Molecular Genetics (p. 1074-1089) - 5/6/2024
10.1093/hmg/ddae051 Ver en origen
- ISSN 14602083
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG
- Gallego D
- Serrano M
- Cordoba-Caballero J
- Gámez A
- Seoane P
- Perkins JR
- Ranea JAG
- Pérez B
Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 24/4/2024
10.1016/j.bbadis.2024.167163 Ver en origen
- ISSN 09254439
- iMarina
- iMarina
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
- Arribas-Carreira, Laura
- Castro, Margarita
- Garcia, Fernando
- Navarrete, Rosa
- Bravo-Alonso, Irene
- Zafra, Francisco
- Ugarte, Magdalena
- Richard, Eva
- Perez, Belen
- Rodriguez-Pombo, Pilar
International Journal Of Molecular Sciences - 28/2/2024
- ISSN 14220067
- iMarina
An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis
- Martin, Juan Cruz Herrero
- Ansa, Benat Salegi
- Alvarez-Rivera, Gerardo
- Dominguez-Zorita, Sonia
- Rodriguez-Pombo, Pilar
- Perez, Belen
- Calvo, Enrique
- Miguez, David G
- Cifuentes, Alejandro
- Cuezva, Jose M
- Formentini, Laura
Nature Metabolism (p. 209-+) - 1/2/2024
10.1038/s42255-023-00956-y Ver en origen
- ISSN 25225812
- iMarina
- iMarina
Este/a investigador/a no tiene libros.
Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers
- Merinero, B
- Alcaide, P
- Martin-Hernandez, E
- Morais, A
- Garcia-Silva, M T
- Quijada-Fraile, P
- Pedron-Giner, C
- Dulin, E
- Yahyaoui, R
- Egea, J M
- Belanger-Quintana, A
- Blasco-Alonso, J
- Fernandez Ruano, M L
- Besga, B
- Ferrer-Lopez, I
- Leal, F
- Ugarte, M
- Ruiz-Sala, P
- Perez, B
- Perez-Cerda, C
JIMD Reports (p. 63-74) - 1/1/2018
Editor: Springer
10.1007/8904_2017_40 Ver en origen
- ISSN 21928304
- ISSN/ISBN 2192-8312
- Dialnet
- iMarina
Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación
- Pérez-Cerdá Silvestre, Celia
- Girós Blasco, M
- Serrano, Mercedes
- Pérez Dueñas, Belén
- Ecay, María Jesús
- Medrano, Celia
- Gort Mas, Laura
- Pérez González, María Belén
Protocolos De Diagnóstico Y Tratamiento De Los Errores Congénitos Del Metabolismo (p. 271-290) - 1/1/2018
- iMarina
Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature
- Vitoria, I
- Martin-Hernandez, E
- Pena-Quintana, L
- Bueno, M
- Quijada-Fraile, P
- Dalmau, J
- Molina-Marrero, S
- Perez, B
- Merinero, B
Jimd Reports (p. 11-20) - 1/1/2015
10.1007/8904_2014_382 Ver en origen
- ISSN 21928304
Severe neonatal metabolic decompensation in methylmalonic acidemia caused by CblD defect
- Parini, R
- Furlan, F
- Brambilla, A
- Codazzi, D
- Vedovati, S
- Corbetta, C
- Fedeli, T
- Merinero, B
- Perez, B
- Ugarte, M
JIMD Reports (p. 133-137) - 1/1/2013
10.1007/8904_2013_232 Ver en origen
- ISSN 21928304
Minigenes to confirm exon skipping mutations
- Desviat, Lourdes R
- Perez, Belen
- Ugarte, Magdalena
Methods In Molecular Biology (p. 37-47) - 23/4/2012
10.1007/978-1-61779-767-5_3 Ver en origen
- ISSN 10643745
RNA-Based Therapies for Inherited Metabolic Diseases
- Pérez B
- Ugarte M
- Desviat LR
Rna Technologies (p. 357-370) - 1/1/2012
10.1007/978-3-642-27426-8_14 Ver en origen
- ISSN 21979731
CPEB alteration and aberrant transcriptome-polyadenylation unveil a treatable vitamin B1 deficiency in huntington’s disease
- Pico, S
- Parras, A
- Santos-Galindo, M
- Pose-Utrilla, J
- Castro, M
- Fraga, E
- Hernandez, IH
- Elorza, A
- Anta, H
- Wang, N
- Marti-Sanchez, L
- Belloc, E
- Garcia-Esparcia, P
- Garrido, JJ
- Ferrer, I
- Macias-Garcia, D
- Mir, P
- Artuch, R
- Perez, B
- Hernandez, F
- Navarro, P
- Lopez-Sendon, JL
- Iglesias, T
- Yang, XW
- Mendez, R
- Lucas, JJ
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (p. A49-A49) - 1/9/2021
- ISSN 00223050
Inborn errors of metabolism diagnosis in next generation sequencing era: Opportunities and difficulties
- Perez, B
CLINICA CHIMICA ACTA (p. S735-S735) - 1/1/2019
- ISSN 00098981
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism
- Castro, M
- Carrillo, R
- Garcia, F
- Sanz, P
- Ferrer, I
- Ruiz-Sala, P
- Vega, A I
- Ruiz Desviat, L
- Perez, B
- Perez-Cerda, C
- Merinero, B
- Ugarte, M
Nucleosides Nucleotides & Nucleic Acids (p. 233-240) - 4/4/2014
10.1080/15257770.2013.854381 Ver en origen
- ISSN 15257770
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)
- Casado M., O'Callaghan M., Montero R., Pérez-Cerda C., Pérez B., Briones P., Quintana E., Muchart J., Aracil A., Pineda M., Artuch R.
Cerebellum (p. 557-563) - 1/6/2012
10.1007/s12311-011-0313-y Ver en origen
- ISSN 14734222
EXPANDING OUR KNOWLEDGE OF CONGENITAL DISORDER OF GLYCOSYLATION-DPAGT1 TYPE
- Perez, B
- Vega, A
- Medrano, C
- Martin-Higueras, C
- Pascual, S, I
- Arroyo, I
- Domingo, R
- Artuch, R
- Briones, P
- Ugarte, M
- Perez-Cerda, C
Journal Of Inherited Metabolic Disease (p. S113-S113) - 1/1/2012
- ISSN 01418955
- iMarina
Association of cerebrospinal fluid homovanillic acid and neurological diseases
- Perez Villacastin, Benjamin
- Molero, M
- Serrano, M
- Ortez, C
- Ormazabal, A
- Tondo, M
- Perez-Duenas, B
- Perez, B
- Lopez-Laso, E
- Garcia-Silva, M T
- Pineda, M
- Campistol, J
- Garcia-Cazorla, A
- Artuch, R
Journal Of Inherited Metabolic Disease (p. S131-S131) - 1/1/2011
- ISSN 01418955
- iMarina
MILD HOMOCYSTEINEMIA AND METHYLMALONIC ACIDURIA IN A CASE WITH PANCYTOPENIA DUE TO TRANSCOBALAMIN II DEFICIENCY
- Merinero, B
- Lama, R
- Morais, A
- Ruiz Sala, P
- Sanz, P
- Castro, M
- Garcia, M J
- Leal, F
- Perez-Cerda, C
- Perez, B
- Ugarte, M
Journal Of Inherited Metabolic Disease (p. S158-S158) - 1/1/2010
- ISSN 01418955
- iMarina
Study of the C677T polymorphism and plasma homocysteine levels
- González Martín-Moro B
- Pérez B
- Santiuste Puente C
- Desviat LR
- Ugarte M
- Pérez ML
- Pardo Vigo A
- Matíes Prats M
Quimica Clinica (p. 41-45) - 12/9/2005
- ISSN 11392436
- iMarina
Age at menarche in a marginal Spanish gypsy group
- Prado C
- De Juan R
- Diaz A
- Marrodan MD
- Pérez B
- Aréchiga J
Acta Medica Auxologica (p. 97-103) - 1/1/2001
- ISSN 00016004
- iMarina
Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity
- Desviat, LR
- Perez, B
- Ugarte, M
Journal Of Inherited Metabolic Disease (p. 227-230) - 20/5/1996
10.1007/bf01799436 Ver en origen
- ISSN 01418955
Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis
- Pena-Burgos EM, Regojo RM, Sáenz de Pipaón M, Santos-Simarro F, Ruiz-Sala P, Pérez B, Esteban-Rodríguez MI
Pediatric And Developmental Pathology (p. 138-143) - 1/3/2023
- ISSN 10935266
- iMarina
A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening
- Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B
Journal Of Inherited Metabolic Disease (p. 407-413) - 1/5/2019
- ISSN 01418955
- iMarina
Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency
- Perez Gonzalez, Maria Belen
- Ortez, C
- Jou, C
- Cortes-Saladelafont, E
- Moreno, J
- Perez, A
- Ormazabal, A
- Perez-Cerda, C
- Perez, B
- Artuch, R
- Cusi, V
- Garcia-Cazorla, A
Infantile Parkinsonism And Gabaergic Hypotransmission In A Patient With Pyruvate Carboxylase Deficiency (p. 302-306) - 15/12/2013
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of aminoadipic semialdehyde synthase deficiency
- Tondo, Mireia
- Calpena, Eduardo
- Arriola, Gema
- Sanz, Paloma
- Martorell, Loreto
- Ormazabal, Aida
- Castejon, Esperanza
- Palacin, Manuel
- Ugarte, Magdalena
- Espinos, Carmen
- Perez, Belen
- Perez-Duenas, Belen
- Perez-Cerda, Celia
- Artuch, Rafael
Molecular Genetics And Metabolism (p. 231-236) - 1/11/2013
10.1016/j.ymgme.2013.06.021 Ver en origen
- ISSN 10967192
Este/a investigador/a no tiene informes técnicos.
BRIDGing the research and INnovation Gap for Rare Diseases in Europe by upgrading excellence of IMGGE
- Perez Gonzalez, Maria Belen (Investigador/a)
- Richard Rodriguez, Eva Maria (Miembro del equipo de investigación)
Ejecución: 01-10-2024 - 30-09-2027
Importe financiado: 1440187,50 Euros.
- iMarina
Enfoque Cross-Omico para el descubrimiento de la base genética de errores innatos del metabolismo y para una intervencion terapeutica personalizada
- BRAVO ALONSO, IRENE (Investigador/a)
- ARRIBAS CARREIRA, LAURA (Investigador/a)
- GALLEGO MARTINEZ, DIANA (Investigador/a)
- NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
- 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)
Ejecución: 01-01-2020 - 31-12-2022
Tipo: Nacional
Importe financiado: 244420,00 Euros.
- iMarina
Programa de actividades de I+D RAREGENOMICS-CM
- Perez Gonzalez, Maria Belen (Investigador/a)
Ejecución: 01-01-2018 - 31-12-2021
- iMarina
PROGRAMA DE ACTIVIDADES DE I+D RAREGENOMICS-CM - RARE.META-CBM
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Ejecución: 01-01-2018 - 30-06-2022
- iMarina
Enfermedades neurometabólicas hereditarias: avances en el diagnóstico, la patofisiología y desarrollo de terapias dirigidas a estabilizar proteínas
- BRAVO ALONSO, IRENE (Investigador/a)
- LEAL PEREZ, M FATIMA (Investigador/a)
- MERINERO CORTES, BEGOÑA (Investigador/a)
- VEGA PAJARES, ANA ISABEL (Investigador/a)
- NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
- PEREZ CERDA, Celia (Investigador/a)
- ECAY CRESPO, M JESUS (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
- Gamez Abascal, Maria Alejandra (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- Arduim Brasil, Sandra Dolores (Investigador/a)
Ejecución: 01-01-2017 - 31-12-2019
Tipo: Nacional
Importe financiado: 212052,50 Euros.
- iMarina
Acidemia metilmalónica: Identificación de genes responsables, generación de modelos celulares de enfermedas e investigación en terapias.
- LEAL PEREZ, M FATIMA (Investigador/a)
- VEGA PAJARES, ANA ISABEL (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
- Ana Isabel Vega Pajares (Investigador/a)
- Gamez Abascal, Maria Alejandra (Investigador/a)
- Yuste Checa, Patricia (Investigador/a)
- M Fatima Leal Perez (Investigador/a)
Ejecución: 01-01-2014 - 31-12-2016
- iMarina
Desarrollo de chaperonas farmacológicas para el tratamiento de infermedades raras neurometabólicas.
- Gamez, Alejandra (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Ejecución: 01-01-2013 - 31-12-2016
- 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
La mitocondria y su implicación en patología humana (Grupo CEDEM)
- Sanchez Muñoz, Aranzazu (Investigador principal (IP))
- Fulvio Santacatterina (Investigador/a)
- Laura Formentini (Investigador/a)
- Garcia Bermudez, Javier (Investigador/a)
- Willers, Imke María (Investigador/a)
- Satrustegui Gil Delgado, Jorgina (Investigador principal (IP))
- Ugarte Perez, Magdalena (Investigador principal (IP))
- Cuezva Marcos, Jose Manuel (Investigador principal (IP))
- Perez Gonzalez, Maria Belen (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
La molécula de RNA en diagnóstico y terapia de precisión
- Perez Gonzalez, Maria Belen (Director) Doctorando: SORIANO SEXTO, ALEJANDRO
10/3/2025
- iMarina
Genómica funcional aplicada a la identificación de dianas terapéuticas en enfermedades metabólicas hereditarias
- Perez Gonzalez, Maria Belen (Director) Doctorando: GALLEGO MARTINEZ, DIANA
23/5/2024
- iMarina