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RESEARCH GROUPS
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PROGRAMME:
Group U703
Inherited Metabolic
Medicine
Group Members
Lead Researcher
Artuch Iriberri, Rafael
STAFF MEMBERS
Casado Ro, Mercedes
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Corts Saladelafont, Elisenda*
Contact:
Gonzlez, Maria Julieta*
Hospital Sant Joan de Du. Montero Snchez, Raquel
Unidad de Enfermedades Metabólicas.
Nafra Escalera, Begoa*
Passeig Sant Joan de Du, 2. 08950 Esplugas de Llobregat, Barcelona. Ortez Gonzlez, Carlos Ignacio*
Phone: (+34) 93 280 61 69 · E.mail: [email protected]
Serrano Gimar, Mercedes
Websites: www.hsjdbcn.org · www.guiametabolica.org
ASSOCIATED MEMBERS
Armstrong Morn, Judith
Campistol Plana, Jaume Main lines of research
Colomer Oferil, Jaume
Fons Estupia, Carmen • Intermediary metabolism congenital errors (amino acid disorders and or-
ganic acidurias)
Garca-Cazorla, Angels
Gmez Lpez, Lilian • Mitochondrial oxidative phosphorylation defects. Primary coenzyme Q10
Jimnez-Mallebrera, Cecilia deficiency.
Martorell Sampol, Loreto 13
• Neurometabolic diseases: Inborn errors of dopamine and serotonin 20
Nascimento Osorio, Andrs T
biosynthesis, of glucose and folate transport through blood brain barrier. R
Ormazabal Herrero, Ada Cerebral creatine deficiency syndromes.
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Prez Dueas, Beln E
• Treatment with orphan drugs for several genetic diseases. Clinical and bio- L R
Pineda Marf, Merc
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chemical follow-up of patients.
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• Congenital muscle distrophies
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* At the expense of Project
