Expert in
Biochemistry. Inborn errors of metabolism
Languages
English, Spanish, Catalan
PhD in Medicine and specialist in Clinical Biochemistry. I have been head of the U-703 research group of the Centro de Investigación Biomédica en Red - Enfermedades Raras (CIBER-ER) [Centre for Biomedical Network Research on Rare Diseases] since 2007. I have holded the position of Deputy Scientific Director at the SJD Research Institute from 2015 to 2022. I am in charge of the hereditary metabolic disorders laboratory.
Training
- PhD in Medicine.
- Specialist in Clinical Biochemistry through Resident Medical Internship training.
- Bachelor's Degree in Medicine.
Scientific activity
- Researcher in the area of Hereditary Metabolic Disorders.
- Cortès-Saladelafont E, Molero-Luis M, HSJD Working Group, Artuch R, García-Cazorla À. Pyridoxal Phosphate Supplementation in Neuropediatric Disorders. Semin Pediatr Neurol, 2016.
- González MJ, Gassió R, Artuch R, Campistol J. Impaired Neurotransmission in Early-treated Phenylketonuria Patients. Semin Pediatr Neurol, 2016.
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