Rafael Artuch Iriberri
Jefe de Grupo Senior
Research group
Professional network profiles
Last Publications
- Rullo-Tubau J, Martinez-Molledo M, Bartoccioni P, Puch-Giner I, Arias AY, Saen-Oon S, Stephan-Otto Attolini C, Artuch-Iriberri R, Díaz L, Guallar V, Errasti-Murugarren E, Palacín M and Llorca O Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter. NATURE COMMUNICATIONS . 15(1): 2986-2986.
- Emperador S, Habbane M, López-Gallardo E, Del Rio A, Llobet L, Mateo J, Sanz-López AM, Fernández-García MJ, Sánchez-Tocino H, Benbunan-Ferreiro S, Calabuig-Goena M, Narvaez-Palazón C, Fernández-Vega B, González-Iglesias H, Urreizti R, Artuch-Iriberri R, Pacheu-Grau D, Bayona-Bafaluy P, Montoya J and Ruiz-Pesini E Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree ORPHANET JOURNAL OF RARE DISEASES . 19(1): 148-148.
- Oliva-Mussara C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes CLINICAL CHEMISTRY AND LABORATORY MEDICINE . : .
Projects
- Project name:
- Pipeline para el diagnóstico y seguimiento de pacientes con enfermedades mitocondriales basado en un análisis multiómico: Mitoverso
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Artuch Iriberri, Rafael, Instituto de Salud Carlos III (ISCIII)
- Code
- PI23/00006
- Starting - finishing date:
- 2024 - 2026
- 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:
- Desarrollo de una plataforma de análisis metabolómico dirigido para el diagnóstico e investigación de enfermedades raras de base genética
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Hospital Sant Joan de Déu - Esplugues HSJD
- Code
- BR202102
- Starting - finishing date:
- 2022 - 2025
News
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Researchers generate a stem cell-based model to study an ultra-rare disease that causes childhood parkinsonism
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.
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Device developed to facilitate monitoring of hereditary and hepatic metabolic disorders
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.
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First clinical guideline on Schaaf-Yang syndrome for professionals and families
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.
More activities
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Defensa tesi doctoral: Abraham José Paredes Fuentes
Aula de Graus de la Facultat de Biologia · UB