Rafael Artuch

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 46

Top Venues

European journal of human genetics : EJHG

EMBO molecular medicine

Journal of inherited metabolic disease

International journal of molecular sciences

Hospital Sant Joan de Déu

Hospital Sant Joan de Déu (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Sant Joan de Déu Jan 01 2001

Spain

MD, PhD :: Clinical Biochemistry

Education History

Hospital Sant Joan de Déu Jan 01 1993 - Jun 27 1998

Spain

PHD :: Clinical Biochemistry

Publications

Nathalie Launay, Jone Lopez-Erauskin, Patrizia Bianchi, Sanjib Guha, Janani Parameswaran, Andrea Coppa, Lorenzo Torreni, Agatha Schlüter, Stéphane Fourcade, Abraham J Paredes-Fuentes, Rafael Artuch, Carlos Casasnovas, Montserrat Ruiz, Aurora Pujol
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy. Brain : a journal of neurology 147 (6) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Maja R Adel, Ester Antón-Galindo, Edurne Gago-Garcia, Angela Arias-Dimas, Concepció Arenas, Rafael Artuch, Bru Cormand, Noèlia Fernàndez-Castillo
Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Partial Reversion of Behavioural Alterations by the SSRI Fluoxetine. Pharmaceuticals (Basel, Switzerland) 17 (2) (2024)
Josep Rullo-Tubau, Maria Martinez-Molledo, Paola Bartoccioni, Ignasi Puch-Giner, Ángela Arias, Suwipa Saen-Oon, Camille Stephan-Otto Attolini, Rafael Artuch, Lucía Díaz, Victor Guallar, Ekaitz Errasti-Murugarren, Manuel Palacín, Oscar Llorca
Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter. Nature communications 15 (1) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Clara Mayayo-Vallverdú, Héctor Gaitán-Peñas, Mercedes Armand-Ugon, Ashraf Muhaisen, Esther Prat, Aida Castellanos, Xabier Elorza-Vidal, Miguel López de Heredia, Marta Vecino-Pérez, Carla Pérez-Rius, Marta Vecino-Pérez, Adrián Mallen, Ekaitz Errasti-Murugarren, Miguel Hueso, Rafael Artuch, Virginia Nunes, Raul Estevez
Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia. The Journal of physiology 602 (17) (2024)
Nathalie Launay, Jone Lopez-Erauskin, Patrizia Bianchi, Sanjib Guha, Janani Parameswaran, Andrea Coppa, Lorenzo Torreni, Agatha Schlüter, Stéphane Fourcade, Abraham J Paredes-Fuentes, Rafael Artuch, Carlos Casasnovas, Montserrat Ruiz, Aurora Pujol
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy. Brain : a journal of neurology (2024)
Josep Rullo-Tubau, Maria Martinez-Molledo, Paola Bartoccioni, Ignasi Puch-Giner, Ángela Arias, Suwipa Saen-Oon, Camille Stephan-Otto Attolini, Rafael Artuch, Lucía Díaz, Victor Guallar, Ekaitz Errasti-Murugarren, Manuel Palacín, Oscar Llorca
Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter. Nature communications 15 (1) (2024)
Josep Rullo-Tubau, Maria Martinez-Molledo, Paola Bartoccioni, Ignasi Puch-Giner, Ángela Arias, Suwipa Saen-Oon, Camille Stephan-Otto Attolini, Rafael Artuch, Lucía Díaz, Victor Guallar, Ekaitz Errasti-Murugarren, Manuel Palacín, Oscar Llorca
Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter. Nature communications 15 (1) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG (2024)
Sergio Barroso, Mariona Guitart-Mampel, Francesc Josep García-García, Judith Cantó-Santos, Laura Valls-Roca, Félix Andújar-Sánchez, Adrià Vilaseca-Capel, Ester Tobías, Angela Arias-Dimas, Tania Quesada-López, Rafael Artuch, Francesc Villarroya, Marta Giralt, Esteban Martínez, Ester Lozano, Gloria Garrabou
Metabolic, Mitochondrial, and Inflammatory Effects of Efavirenz, Emtricitabine, and Tenofovir Disoproxil Fumarate in Asymptomatic Antiretroviral-Naïve People with HIV. International journal of molecular sciences 25 (15) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Clara Mayayo-Vallverdú, Héctor Gaitán-Peñas, Mercedes Armand-Ugon, Ashraf Muhaisen, Esther Prat, Aida Castellanos, Xabier Elorza-Vidal, Miguel López de Heredia, Marta Vecino-Pérez, Carla Pérez-Rius, Marta Vecino-Pérez, Adrián Mallen, Ekaitz Errasti-Murugarren, Miguel Hueso, Rafael Artuch, Virginia Nunes, Raul Estevez
Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia. The Journal of physiology 602 (17) (2024)
Nathalie Launay, Jone Lopez-Erauskin, Patrizia Bianchi, Sanjib Guha, Janani Parameswaran, Andrea Coppa, Lorenzo Torreni, Agatha Schlüter, Stéphane Fourcade, Abraham J Paredes-Fuentes, Rafael Artuch, Carlos Casasnovas, Montserrat Ruiz, Aurora Pujol
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy. Brain : a journal of neurology 147 (6) (2024)
Maja R Adel, Ester Antón-Galindo, Edurne Gago-Garcia, Angela Arias-Dimas, Concepció Arenas, Rafael Artuch, Bru Cormand, Noèlia Fernàndez-Castillo
Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Partial Reversion of Behavioural Alterations by the SSRI Fluoxetine. Pharmaceuticals (Basel, Switzerland) 17 (2) (2024)
María Alcázar Fabra, Abraham J Paredes-Fuentes, Manuel Torralba Carnerero, Daniel José Moreno Fernández-Ayala, Antonio Arroyo Luque, Ana Sánchez-Cuesta, Carmine Staiano, Paula Sánchez-Pintos, Maria-Luz Couce, Miguel Tomás Vila, Ana Victoria Marco Hernández, Carmen Orellana, Francisco Martínez, Mónica Roselló, Alfonso Caro, Juan Silvestre Oltra Soler, Sandra Monfort, Alejandro Sánchez, Dolores Rausell, Isidro Vitoria, Mireia Del Toro, Ángeles García-Cazorla, Natalia A Julia-Palacios, Cristina Jou, Delia Yubero, Luis Carlos López, Juan Diego Hernández Camacho, Guillermo Lopez-Lluch, Manuel Ballesteros Simarro, Juan Carlos Rodríguez-Aguilera, Gloria Brea Calvo, María Victoria Cascajo Almenara, Rafael Artuch, Carlos Santos-Ocaña
New variants expand the neurological phenotype of COQ7 deficiency. Journal of inherited metabolic disease (2024)
Sergio Barroso, Mariona Guitart-Mampel, Francesc Josep García-García, Judith Cantó-Santos, Laura Valls-Roca, Félix Andújar-Sánchez, Adrià Vilaseca-Capel, Ester Tobías, Angela Arias-Dimas, Tania Quesada-López, Rafael Artuch, Francesc Villarroya, Marta Giralt, Esteban Martínez, Ester Lozano, Gloria Garrabou
Metabolic, Mitochondrial, and Inflammatory Effects of Efavirenz, Emtricitabine, and Tenofovir Disoproxil Fumarate in Asymptomatic Antiretroviral-Naïve People with HIV. International journal of molecular sciences 25 (15) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG (2024)
Clara Mayayo-Vallverdú, Héctor Gaitán-Peñas, Mercedes Armand-Ugon, Ashraf Muhaisen, Esther Prat, Aida Castellanos, Xabier Elorza-Vidal, Miguel López de Heredia, Marta Vecino-Pérez, Carla Pérez-Rius, Marta Vecino-Pérez, Adrián Mallen, Ekaitz Errasti-Murugarren, Miguel Hueso, Rafael Artuch, Virginia Nunes, Raul Estevez
Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia. The Journal of physiology (2024)
Beatriz Minguez, Mariela de Los Santos, Camila Garcia-Volpe, Cristina Molera, Abraham J Paredes-Fuentes, Clara Oliva, Angela Arias, Helena Rodriguez-Gonzalez, Delia Yubero, Mireia Tondo, Carlos Santos-Ocaña, Silvia Meavilla, Rafael Artuch
Exploring Plasma Coenzyme Q 10 Status in Paediatric Dyslipidaemia. Antioxidants (Basel, Switzerland) 13 (8) (2024)
Clara Mayayo-Vallverdú, Héctor Gaitán-Peñas, Mercedes Armand-Ugon, Ashraf Muhaisen, Esther Prat, Aida Castellanos, Xabier Elorza-Vidal, Miguel López de Heredia, Marta Vecino-Pérez, Carla Pérez-Rius, Marta Vecino-Pérez, Adrián Mallen, Ekaitz Errasti-Murugarren, Miguel Hueso, Rafael Artuch, Virginia Nunes, Raul Estevez
Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia. The Journal of physiology 602 (17) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Beatriz Minguez, Mariela de Los Santos, Camila Garcia-Volpe, Cristina Molera, Abraham J Paredes-Fuentes, Clara Oliva, Angela Arias, Helena Rodriguez-Gonzalez, Delia Yubero, Mireia Tondo, Carlos Santos-Ocaña, Silvia Meavilla, Rafael Artuch
Exploring Plasma Coenzyme Q 10 Status in Paediatric Dyslipidaemia. Antioxidants (Basel, Switzerland) 13 (8) (2024)
Clara Mayayo-Vallverdú, Esther Prat, Marta Vecino-Pérez, Laura González, Silvia Gràcia-Garcia, Luz San Miguel, Noelia Lopera, Angela Arias, Rafael Artuch, Miguel López de Heredia, Carlos Torrecilla, Ferran Rousaud-Barón, Oriol Angerri, Ekaitz Errasti-Murugarren, Virginia Nunes
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study. International journal of molecular sciences 24 (24) (2023)
Clara Mayayo-Vallverdú, Esther Prat, Marta Vecino-Pérez, Laura González, Silvia Gràcia-Garcia, Luz San Miguel, Noelia Lopera, Angela Arias, Rafael Artuch, Miguel López de Heredia, Carlos Torrecilla, Ferran Rousaud-Barón, Oriol Angerri, Ekaitz Errasti-Murugarren, Virginia Nunes
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study. International journal of molecular sciences 24 (24) (2023)
Abraham J Paredes-Fuentes, Clara Oliva, Roser Urreizti, Delia Yubero, Rafael Artuch
Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up. Critical reviews in clinical laboratory sciences (2023)
Alba Tristán-Noguero, Irene Fernández-Carasa, Carles Calatayud, Cristina Bermejo-Casadesús, Meritxell Pons-Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo-Jiménez, Salvador Ibáñez, Mercedes Pineda, Rafael Artuch, Ángel Raya, Ángeles García-Cazorla, Antonella Consiglio
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation. EMBO molecular medicine 15 (3) (2023)
Jordi Pijuan, Irina F Sevrioukova, Óscar García-Campos, Mar Hernaez, Laura Gort, Marta Gómez-Chiari, Cristina Jou, Santiago Candela-Cantó, Jordi Rumiá, Rafael Artuch, Francesc Palau, Janet Hoenicka, Juan Dario Ortigoza-Escobar
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation. Movement disorders : official journal of the Movement Disorder Society (2023)
Alba Tristán-Noguero, Irene Fernández-Carasa, Carles Calatayud, Cristina Bermejo-Casadesús, Meritxell Pons-Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo-Jiménez, Salvador Ibáñez, Mercedes Pineda, Rafael Artuch, Ángel Raya, Ángeles García-Cazorla, Antonella Consiglio
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation. EMBO molecular medicine 15 (3) (2023)
Alba Tristán-Noguero, Irene Fernández-Carasa, Carles Calatayud, Cristina Bermejo-Casadesús, Meritxell Pons-Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo-Jiménez, Salvador Ibáñez, Mercedes Pineda, Rafael Artuch, Ángel Raya, Ángeles García-Cazorla, Antonella Consiglio
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation. EMBO molecular medicine (2023)
Tessa M A Peters, Udo F H Engelke, Siebolt de Boer, Joris T G Reintjes, Jean-Baptiste Roullet, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Mirjam M C Wamelink, Rafael Artuch, Ivo Barić, Jona Merx, Thomas J Boltje, Jonathan Martens, Michel A A P Willemsen, Marcel M Verbeek, Ron A Wevers, K Michael Gibson, Karlien L M Coene
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: an untargeted metabolomics perspective. Journal of inherited metabolic disease (2023)
Alba Tristán-Noguero, Irene Fernández-Carasa, Carles Calatayud, Cristina Bermejo-Casadesús, Meritxell Pons-Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo-Jiménez, Salvador Ibáñez, Mercedes Pineda, Rafael Artuch, Ángel Raya, Ángeles García-Cazorla, Antonella Consiglio
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation. EMBO molecular medicine 15 (3) (2023)
Alba Tristán-Noguero, Irene Fernández-Carasa, Carles Calatayud, Cristina Bermejo-Casadesús, Meritxell Pons-Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo-Jiménez, Salvador Ibáñez, Mercedes Pineda, Rafael Artuch, Ángel Raya, Ángeles García-Cazorla, Antonella Consiglio
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation. EMBO molecular medicine 15 (3) (2023)
Alba Tristán-Noguero, Irene Fernández-Carasa, Carles Calatayud, Cristina Bermejo-Casadesús, Meritxell Pons-Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo-Jiménez, Salvador Ibáñez, Mercedes Pineda, Rafael Artuch, Ángel Raya, Ángeles García-Cazorla, Antonella Consiglio
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation. EMBO molecular medicine 15 (3) (2023)
Zoe Mariño, Cristina Molera-Busoms, Cèlia Badenas, Jesus Quintero Bernabeu, Mercè Torra, Xavier Forns, Rafael Artuch
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease. Journal of inherited metabolic disease (2023)
Cristina Jou, Andres Nascimento, Anna Codina, Julio Montoya, Ester López-Gallardo, Sonia Emperador, Eduardo Ruiz-Pesini, Raquel Montero, Daniel Natera-de Benito, Carlos I Ortez, Jesus Marquez, María Victoria Zelaya, Alfonso Gutierrez-Mata, Carmen Badosa, Laura Carrera-García, Jesica Expósito-Escudero, Monica Roldán, Yolanda Camara, Ramon Ramon, Isidro Ferrer, Cecilia Jimenez-Mallebrera, Rafael Artuch
Pathological Features in Paediatric Patients with TK2 Deficiency. International journal of molecular sciences 23 (19) (2022)
Tessa M A Peters, Jona Merx, Pieter C Kooijman, Marek J Noga, Siebolt de Boer, Loes Annet van Gemert, Guido Salden, Udo F H Engelke, Dirk J Lefeber, Rianne E van Outersterp, Giel Berden, Thomas J Boltje, Rafael Artuch, Leticia Pías-Peleteiro, Ángeles García-Cazorla, Ivo Barić, Beat Thöny, Jos Oomens, Jonathan K Martens, Ron A Wevers, Marcel M Verbeek, Karlien L M Coene, Michel A A P Willemsen
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit. Journal of inherited metabolic disease (2022)
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet Janssen, Susanna Balcells, Roser Urreizti
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of medical genetics (2022)
Abraham J Paredes-Fuentes, Clara Oliva, Raquel Montero, Patricia Alcaide, George J G Ruijter, Judit García-Villoria, Pedro Ruiz-Sala, Rafael Artuch
Technical Aspects of Coenzyme Q 10 Analysis: Validation of a New HPLC-ED Method. Antioxidants (Basel, Switzerland) 11 (3) (2022)
Obdulia Sánchez-Lijarcio, Delia Yubero, Fátima Leal, María L Couce, Luis González Gutiérrez-Solana, Eduardo López-Laso, Àngels García-Cazorla, Leticia Pías-Peleteiro, Begoña de Azua Brea, Salvador Ibáñez-Micó, Gonzalo Mateo-Martínez, Monica Troncoso-Schifferli, Scarlet Witting-Enriquez, Magdalena Ugarte, Rafael Artuch, Belén Pérez
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1. Clinical genetics 102 (1) (2022)
Sara Picó, Alberto Parras, María Santos-Galindo, Julia Pose-Utrilla, Margarita Castro, Enrique Fraga, Ivó H Hernández, Ainara Elorza, Héctor Anta, Nan Wang, Laura Martí-Sánchez, Eulàlia Belloc, Paula Garcia-Esparcia, Juan José Garrido, Isidro Ferrer, Daniel Macías-García, Pablo Mir, Rafael Artuch, Belén Pérez, Félix Hernández, Pilar Navarro, José Luis López-Sendon Moreno, Teresa Iglesias, X William Yang, Raúl Méndez, José J Lucas
CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease. Science translational medicine 13 (613) (2021)
Alba-Aina Castells, Daniela Gueraldi, Rafel Balada, Alba Tristán-Noguero, Elisenda Cortès-Saladelafont, Federico Ramos, Silvia Meavilla, Mariela De Los Santos, Camila Garcia-Volpe, Roser Colomé, Maria Luz Couce, Cristina Sierra, Aida Ormazábal, Marta Batllori, Rafael Artuch, Judith Armstrong, Soledad Alcántara, Ángeles García-Cazorla
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism. Scientific reports 9 (1) (2019)
Raquel Montero, Delia Yubero, Maria C Salgado, María Julieta González, Jaume Campistol, Maria Del Mar O'Callaghan, Mercè Pineda, Verónica Delgadillo, Joan Maynou, Guerau Fernandez, Julio Montoya, Eduardo Ruiz-Pesini, Silvia Meavilla, Viruna Neergheen, Angels García-Cazorla, Placido Navas, Iain Hargreaves, Rafael Artuch
Plasma coenzyme Q10 status is impaired in selected genetic conditions. Scientific reports 9 (1) (2019)
Clara Vilches, Emilia Boiadjieva-Knöpfel, Susanna Bodoy, Simone Camargo, Miguel López de Heredia, Esther Prat, Aida Ormazabal, Rafael Artuch, Antonio Zorzano, Francois Verrey, Virginia Nunes, Manuel Palacín
Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids. Journal of the American Society of Nephrology : JASN 29 (6) (2018)
Mercedes Casado, Cristina Sierra, Marta Batllori, Rafael Artuch, Aida Ormazabal
A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry. Metabolomics : Official journal of the Metabolomic Society 14 (6) (2018)
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, Raquel Montero, Cristina Sierra, Antonia Ribes, Julio Montoya, Eduardo Ruiz-Pesini, Mar O'Callaghan, Leticia Pias, Andrés Nascimento, Francesc Palau, Judith Armstrong, Delia Yubero, Juan D Ortigoza-Escobar, Angels García-Cazorla, Rafael Artuch
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. Journal of inherited metabolic disease 41 (6) (2018)

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Rafael Artuch