Rafael Artuch Iriberri

Jefe de Grupo Senior

Research group

Cantó-Santos J, Valls-Roca L, Tobías E, Oliva-Mussara C, García-García FJ, Guitart-Mampel M, Andújar-Sánchez F, Esteve-Codina A, Martín-Mur B, Padrosa J, Aránega R, Moreno-Lozano PJ, Milisenda JC, Artuch-Iriberri R, Grau-Junyent JM and Garrabou G Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis. ANTIOXIDANTS 2023. 12(8): .
Mayayo-Vallverdú C, López de Heredia M, Prat E, González L, Espino Guarch M, Vilches C, Muñoz L, Asensi MA, Serra C, Llebaria A, Casado-Rio M, Artuch-Iriberri R, Garrabou G, Garcia-Roves PM, Pallardó FV and Nunes V The antioxidant L-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria REDOX BIOLOGY 2023. 64: 102801-102801.
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch-Iriberri R, Baric I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM and Coene KLM Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective JOURNAL OF INHERITED METABOLIC DISEASE 2023. : .

More Publications

Project name:: ÚNICAS. Implementation of a Pediatric Network for Personalised Medicine in rare pediatric diseases. A Pilot Project.
Leader: Rafael Artuch Iriberri
Funding entities:: Artuch Iriberri, Rafael, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
Code: PMP22/00008
Starting - finishing date:: 2023 - 2025

Project name:: SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
Leader: Francesc Palau Martínez
Funding entities:: Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
Code: 2021 SGR 01610
Starting - finishing date:: 2022 - 2024

Project name:: AADC deficiency screening in patients with encephalopathies of unknown origin
Leader: MªAngels García Cazorla
Funding entities:: PTC Therapeutics, Inc.
Code: PCP00303
Starting - finishing date:: 2021 - 2024

More projects

Researchers generate a stem cell-based model to study an ultra-rare disease that causes childhood parkinsonism
Tuesday, 11 April 2023
Researchers from the Institut de Recerca Sant Joan de Déu (IRSJD), the Bellvitge Biomedical Research Institute (IDIBELL), Sant Pau Research Institute (IIB Sant Pau) and the UB generated the first model of this disease that reproduce patients' characteristics and response to treatment.
Device developed to facilitate monitoring of hereditary and hepatic metabolic disorders
Wednesday, 16 November 2022
Drs. Rafael Artuch and Xavier Rosell, with the IRSJD, collaborate on a UAB research project, which has developed a new device capable of monitoring the patient's blood ammonium levels at any given time.
First clinical guideline on Schaaf-Yang syndrome for professionals and families
Tuesday, 25 October 2022
Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.

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