Clínic Barcelona. Hospital Universitari

Judit García Villoria

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Head of Section

Hospital Clínic – Biomedical Diagnostic CenterBiochemistry and Molecular Genetics

  • Inborn Errors of metabolism, specially in intermediate metabolism area: diagnosis of aminoacidopathies, organic aciduries and beta-oxidation disorders.
  • Tandem mass spectrometry for the diagnosis of beta-oxidation disorders, creatine defects and Cystinosis.
  • 2-methyl-3-hydroxybutyril-CoA dehydrogenase deficiency (HSD10) and its relation with Alzhemier disease.
  • Primary CoQ10 deficiencies. Biochemical selection of patients and analysis of metabolic pathway with stable labelled substrates.
  • Cerebral creatine deficiency. Uptake studies of creatine derivates in iPs and HUVEC cells.
  • Identification and characterization of new gens in families with suspicion of inborn error of metabolism.
  • Theoric and practice training in inborn Errors of Metabolism.
  • Participation in Genetic advice Màster in UPF University.
  • Continuous training and clinical sessions of technological area and knowledge of Inborn Errors of Metabolism.

Other charges

  • Analytical quality control group from CDB: coordinator of Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular genetics

Recent articles

Academic Qualifications

  • Bachelor of Biology (2003)

Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · · www.hospitalclinic.org