Page 44 - CIBERER-2015-eng

Research Groups
Group U703
Programme: Inherited Metabolic Medicine Lead Researcher: Artuch Iriberri, Rafael
Group members
STAFF MEMBERS: Molero Luis, Marta | Montero Sánchez, Raquel.
ASSOCIATED MEMBERS: Armstrong Moron, Judith | Campistol Plana, Jaume | Fons Estupiña, María
del Carmen | García Cazorla, María Ángeles | Jiménez Mallebrera, Cecilia | Jou Muñoz, Cristina | Martorell Sampol, Loreto | Nascimento Osorio, Andres | Ormazabal Herrero, Aida | Pérez Dueñas, Belén | Serrano Gimaré, Mercedes.
Main lines of research
• Phenylketonuriaandotheraminoacidopathies.
• Mitochondrial diseases through oxidative phos- phorylation defects and coenzyme Q10 deficiency.
• Neurometabolicdisordersinthesynthesisofneu- rotransmitters, pterins and glucose transport de- fects. Since 2003 we have implemented the study
of neurometabolic diseases, offering this service to different centres in Spain, Portugal, Greece, Ar- gentina, Chile, La India and Turkey.
• Musculardystrophiesinchildhood.
• Congenital disorders of glycosylation. • Movementdisordersinchildhood.
44 I Annual report 2015 I CIBERER