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

Biología molecular / Universidad Autónoma de Madrid

Publications

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I

  • Perez-Carro, R
  • Sanchez-Alcudia, R
  • Perez, B
  • Navarrete, R
  • Perez-Cerda, C
  • Ugarte, M
  • Desviat, L R
... View more Collapse

Clinical Genetics (p. 167-171) - 1/1/2014

10.1111/cge.12243 View at source

  • ISSN 00099163

Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.

  • Klaassen, Kristel
  • Djordjevic, Maja
  • Skakic, Anita
  • Desviat, Lourdes R
  • Pavlovic, Sonja
  • Perez, Belen
  • Stojiljkovic, Maja
... View more Collapse

Biochemical Genetics (p. 1-9) - 1/10/2018

10.1007/s10528-018-9858-5

  • ISSN 00062928
  • iMarina

Functional Analysis of Three Splicing Mutations Identified in the PMM2Gene: Toward a New Therapy for Congenital Disorder of Glycosylation typeIA

  • Vega, Ana I
  • Perez-Cerda, Celia
  • Desviat, Lourdes R
  • Matthijs, Gert
  • Ugarte, Magdalena
  • Perez, Belen

Human Mutation (p. 795-803) - 1/5/2009

10.1002/humu.20960 View at source

  • ISSN 10597794

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

  • Martinez-Monseny A
  • Cuadras D
  • Bolasell M
  • Muchart J
  • Arjona C
  • Borregan M
  • Algrabli A
  • Montero R
  • Artuch R
  • Velázquez-Fragua R
  • Macaya A
  • Pérez-Cerdá C
  • Pérez-Dueñas B
  • Pérez B
  • Serrano M
... View more Collapse

Journal Of Medical Genetics (p. 236-245) - 1/4/2019

10.1136/jmedgenet-2018-105588

  • ISSN 00222593
  • iMarina

Feasibility of Nonsense Mutation Readthrough as a Novel TherapeuticalApproach in Propionic Acidemia

  • Sanchez-Alcudia, Rocio
  • Perez, Belen
  • Ugarte, Magdalena
  • Desviat, Lourdes R

Human Mutation (p. 973-980) - 1/6/2012

10.1002/humu.22047 View at source

  • ISSN 10597794

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
... View more Collapse

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

  • ISSN 00222593
  • iMarina

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations

  • Isabel Vega, Ana
  • Perez-Cerda, Celia
  • Abia, David
  • Gamez, Alejandra
  • Briones, Paz
  • Artuch, Rafael
  • Desviat, Lourdes R
  • Ugarte, Magdalena
  • Perez, Belen
... View more Collapse

Journal Of Inherited Metabolic Disease (p. 929-939) - 1/8/2011

10.1007/s10545-011-9328-2 View at source

  • ISSN 01418955

Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein

  • Gámez, A
  • Pérez, B
  • Ugarte, M
  • Desviat, LR

Journal Of Biological Chemistry (p. 29737-29742) - 22/9/2000

10.1074/jbc.m003231200 View at source

  • ISSN 00219258

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia

  • PEREZ, B
  • DESVIAT, LR
  • UGARTE, M

Human Mutation (p. 188-190) - 1/1/1995

10.1002/humu.1380050217 View at source

  • ISSN 10597794

Exploring miRNA-target gene pair detection in disease with coRmiT.

  • Cordoba-Caballero, Jose
  • Perkins, James R
  • Garcia-Criado, Federico
  • Gallego, Diana
  • Navarro-Sanchez, Alicia
  • Moreno-Estelles, Mireia
  • Garces, Concepcion
  • Bonet, Fernando
  • Roma-Mateo, Carlos
  • Toro, Rocio
  • Perez, Belen
  • Sanz, Pascual
  • Kohl, Matthias
  • Rojano, Elena
  • Seoane, Pedro
  • Ranea, Juan A G
... View more Collapse

Briefings In Bioinformatics - 22/1/2024

10.1093/bib/bbae060

  • ISSN 14675463
  • iMarina

This researcher has no books.

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

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

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

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

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

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

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

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

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

Spectrum and origin of phenylketonuria mutations in Spain

  • PEREZ, B
  • DESVIAT, LR
  • DELUCCA, M
  • UGARTE, M

Acta Paediatrica (p. 34-36) - 1/1/1994

10.1111/j.1651-2227.1994.tb13444.x

  • ISSN 16512227
  • iMarina

PHENOTYPE DISTRIBUTION IN THE SPANISH PHENYLKETONURIA POPULATION AND RELATED GENOTYPES

  • MARTINEZPARDO, M
  • COLMENARES, AR
  • GARCIA, MJ
  • PEREZ, B
  • DESVIAT, LR
  • UGARTE, M

Journal Of Inherited Metabolic Disease (p. 366-368) - 1/5/1994

10.1007/bf00711832 View at source

  • ISSN 01418955

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

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

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

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

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

DIFFERENT PHENOTYPIC MANIFESTATIONS ASSOCIATED WITH IDENTICAL PHENYLKETONURIA GENOTYPES IN 2 SPANISH FAMILIES

  • PEREZ, B
  • DESVIAT, LR
  • GARCIA, MJ
  • UGARTE, M

Journal Of Inherited Metabolic Disease (p. 377-378) - 1/5/1994

10.1007/bf00711839 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

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 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

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.

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

Nuevas terapias en enfermedades metabólicas hereditarias: Terapia génica de modificación de mRNAs y chaperonas farmacológicas.

  • Gamez, Alejandra (Investigador/a)
  • Sandra Arduim Brasil (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador/a)
  • Fatima Leal Perez (Investigador/a)
  • Ana Isabel Vega Pajares (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 01-01-2011 - 31-12-2013

  • iMarina

Nuevas aproximaciones terapeúticas basadas en los mecanismos moleculares de las variantes aléticas de splicing y.

  • Aguado Esteban, Cristina (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 01-01-2007 - 31-12-2007

  • 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

Estudio de la respuesta a BH4 en pacientes fenilcetonúricos Ugarte Pérez Magdalena.

  • Margarita Castro Reguera (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador principal (IP))

Period: 01-01-2005 - 31-12-2007

  • 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

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

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

Efecto de vitaminas/cofactores sobre la expresión génica en enfermedades metabólicas hereditarias Nuevas aproximaciones terapéuticas.

  • Ana Rincon Vela (Investigador/a)
  • Aguado Esteban, Cristina (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador principal (IP))

Period: 01-01-2006 - 31-12-2006

  • iMarina

The linamarase/linamarin/glucosa oxidase system as a potential treatment for glioblastoma in the nude rat brain

  • Almendral del Rio, Jose Maria (Autor o Coautor)
  • Perez Gonzalez, Maria Belen (Autor o Coautor)
  • Marta Izquierdo Rojo (Director) Doctorando: Willie Girald Rosa

1/1/2010

  • 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

Pathogenesis and targeted therapy of T-cell lymphoma

  • Fernandez Piqueras, Jose (Autor o Coautor)
  • Perez Gonzalez, Maria Belen (Autor o Coautor)
  • Piris Pinilla, Miguel Angel (Director)

1/1/2010

  • iMarina

Mecanismos patogénicos de las mutaciones en el gen nf1: Bases moleculares y celulares

  • AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
  • Perez Gonzalez, Maria Belen (Autor o Coautor)
  • Varela Nieto, Isabel (Tutor)

1/1/2013

  • iMarina

La molécula de RNA en diagnóstico y terapia de precisión

  • Perez Gonzalez, Maria Belen (Director) Doctorando: SORIANO SEXTO, ALEJANDRO

10/3/2025

  • iMarina

La homocisteína como factor de riesgo para la enfermedad de alzheimer

  • Bullido Gomez-Heras, Maria Jesus (Director) Doctorando: Tenorio Vela, Raquel

16/10/2007

  • iMarina

Implicación de JAK2 en el desarrollo de los linfomas linfoblásticos de células T

  • Gonzalez Aguilera, Juan Jose (Autor o Coautor)
  • Perez Gonzalez, Maria Belen (Autor o Coautor)
  • Pilar López Nieva (Director)
  • José Fernández Piqueras (Director) Doctorando: Ana María Roncero Sánchez

1/1/2015

  • 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

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

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