RDF/XML JSON-LD N3/Turtle RDF/JSON

Perez Gonzalez, Maria Belen belen.perez@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

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
... View more Collapse

Nutrients - 28/3/2025

10.3390/nu17071173 View at source

  • 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
... View more Collapse

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
... View more Collapse

REVISTA CLINICA ESPANOLA (p. 502356-502356) - 25/10/2025

40850348 View at source

  • 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
... View more Collapse

European Journal Of Human Genetics - 1/1/2025

40275119 View at source

  • 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
... View more Collapse

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.
... View more Collapse

Molecular Genetics And Metabolism - 1/9/2024

10.1016/j.ymgme.2024.108538 View at source

  • 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
... View more Collapse

Human Molecular Genetics (p. 1074-1089) - 5/6/2024

10.1093/hmg/ddae051 View at source

  • 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
... View more Collapse

Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 24/4/2024

10.1016/j.bbadis.2024.167163 View at source

  • ISSN 09254439

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
... View more Collapse

International Journal Of Molecular Sciences - 28/2/2024

10.3390/ijms25052814

  • 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
... View more Collapse

Nature Metabolism (p. 209-+) - 1/2/2024

10.1038/s42255-023-00956-y View at source

  • ISSN 25225812

This researcher has no books.

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
... View more Collapse

JIMD Reports (p. 63-74) - 1/1/2018

Editor: Springer

10.1007/8904_2017_40 View at source

  • ISSN 21928304
  • ISSN/ISBN 2192-8312

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
... View more Collapse

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
... View more Collapse

Jimd Reports (p. 11-20) - 1/1/2015

10.1007/8904_2014_382 View at source

  • 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
... View more Collapse

JIMD Reports (p. 133-137) - 1/1/2013

10.1007/8904_2013_232 View at source

  • 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 View at source

  • 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 View at source

  • ISSN 21979731

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

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
... View more Collapse

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (p. A49-A49) - 1/9/2021

3196774911 View at source

  • 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

2946486215 View at source

  • 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
... View more Collapse

Nucleosides Nucleotides & Nucleic Acids (p. 233-240) - 4/4/2014

10.1080/15257770.2013.854381 View at source

  • 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 View at source

  • 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
... View more Collapse

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
... View more Collapse

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
... View more Collapse

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
... View more Collapse

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 View at source

  • 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

10.1177/10935266221134650

  • 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

10.1002/jimd.12063

  • 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
... View more Collapse

Infantile Parkinsonism And Gabaergic Hypotransmission In A Patient With Pyruvate Carboxylase Deficiency (p. 302-306) - 15/12/2013

10.1016/j.gene.2013.08.036 View at source

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
... View more Collapse

Molecular Genetics And Metabolism (p. 231-236) - 1/11/2013

10.1016/j.ymgme.2013.06.021 View at source

  • ISSN 10967192

A new PKU mutation associated with haplotype 12

  • Desviat LR
  • Pérez B
  • Ugarte M

Human Molecular Genetics (p. 765-6) - 1/12/1992

10.1093/hmg/1.9.765 View at source

  • ISSN 14602083

This researcher has no technical reports.

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)

Period: 01-10-2024 - 30-09-2027

Amount of funding: 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)
... View more Collapse

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

Type of funding: National

Amount of funding: 244420,00 Euros.

  • iMarina

Programa de actividades de I+D RAREGENOMICS-CM

  • Perez Gonzalez, Maria Belen (Investigador/a)

Period: 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))

Period: 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)
... View more Collapse

Period: 01-01-2017 - 31-12-2019

Type of funding: National

Amount of funding: 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)
... View more Collapse

Period: 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))

Period: 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))
... View more Collapse

Period: 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))
... 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

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

Estrategia multi-ómica y de genómica funcional para la mejora del diagnóstico de enfermedades neurometabólicas

  • Perez Gonzalez, Maria Belen (Director) Doctorando: Sánchez Lijarcio, Obdulia

9/4/2024

  • iMarina

Generación de una plataforma de análisis funcional de variantes en PMM2 con fines diagnósticos y terapéuticos

  • Pérez González, Belén (Director) Doctorando: SEGOVIA FALQUINA, CRISTINA

4/9/2023

  • iMarina

Evaluación de nuevos tratamientos para una medicina personalizada en linfomas B agresivos

  • Sánchez-Beato Gómez, Margarita (Director)
  • Perez Gonzalez, Maria Belen (Tutor) Doctorando: Pedrosa Pérez, Lucía

30/6/2023

  • iMarina

Desarrollo de modelos con fines diagnósticos y terapéuticos para la deficiencia de fosfomanomutasa 2

  • VILAS LAGOA, ALICIA (Titulado/a)
  • María Belén Pérez González (Director) Doctorando: Alicia Vilas Lagoa

1/1/2023

  • 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

Desarrollo de modelos para la evaluación de terapias con chaperonas farmacológicas en aciduria metilmalónica y deficiencia en fosfomanomutasa

  • Fernandez Piqueras, Jose (Autor o Coautor)
  • Perez Gonzalez, Maria Belen (Director) Doctorando: Briso-Montiano Pastrana, Alvaro

23/7/2020

  • iMarina

Role of URI in intestinal homeostasis and radiation enteropathy

  • Djouder, Nabil (Director)
  • Perez Gonzalez, Maria Belen (Tutor) Doctorando: Chaves Pérez, Almudena

8/2/2019

  • iMarina

Aplicación de la secuenciación masiva de DNA al diagnóstico de los defectos congénitos de glicosilación y de glucogenosis

  • Perez Gonzalez, Maria Belen (Director) Doctorando: Medrano Rodríguez, Celia

9/3/2017

  • iMarina

Compuestos útiles para el tratamiento de la aciduría metilmalónica

  • Perez Gonzalez, Maria Belen (Autor o Coautor)

11/2/2013

  • iMarina
Last data update: 11/24/25 11:14 PM