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RESEARCH GROUPS
Group U752
Programme: Inherited Metabolic Medicine
Lead Researcher: Giraldo, Pilar Group Members
STAFF MEMBERS: Alfonso Palacín, María Pilar | Irún Irún, María Pilar ASSOCIATED MEMBERS: Andrade Campos, Marcio | Capablo Liesa, José Luis | Latre Martínez, Paz | Pocovi
Mieras, Miguel | Roca Espiau, Mercedes | Sáenz de Cabezón Álvarez, Alicia
Main lines of research
• Gaucher disease epidemiology, in Spain: National Registry acredited by ISO 9001 (Num EC2751/07) . • Genetic analysis and search of genes related to clinical heterogeneity . Directed mutagenesis . DNA,
serum, plasma and leukocyte patient samples biobank .
• Study of biomarkers and inflammatory cytokines and its relationship with response to treatment .
• Study of bone disease by imaging techniques and its relationship with plasma biomarkers .
• Neurological disease evaluation by clinical, neurophysiological and imaging methods .
• Clinical research of new drugs on clinical trials (OGT-011, TKT034, TKT039, Protalix) . Independent clinical trial .
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