Clínic Barcelona. Hospital Universitari

Marisa Giros Blasco

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Hospital Clínic – Biomedical Diagnostic CenterBiochemistry and Molecular Genetics

  • Biochemical screening for the diagnosis of peroxisomal diseases: Zellweger spectrum, Rhizomelic chondrodysplasia punctata , adult Refsum disease and X-linked Adrenoleukodystrophy
  • Biochemical screening for the diagnosis of the cholesterol synthesis defects : Smith-Lemli-Opitz syndrome, X-linked Chondrodysplasia Punctata (CPDX2) Latosterolosis and Desmosterolosis
  • Biochemical diagnosis of Cerebrotendinous Xanthomatosis
  • Biochemical screening of congenital disorders of glycosylation (CDG)
  • Peroxisomal disorders: diagnosis and Treatments;X-linked Adrenoleukodystrophy: modifier genes of phenotipes . Exome studies
  • Smit-Lemli-Opitz disease: diagnosis and treatments Epidemiologic data in Spain. Assays in cultured cells of treatments.
  • Cerebrotendinous Xanthomatosis and Chondrodysplasia punctata X linked (CDPX2) Spanish prevalence and treatments
  • Congenital Disorders of Glycosilation (CDG) improve diagnostic assays and search of new genes
  • PUFas studies in metabolic disorders

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Academic Qualifications

  • (2005)
  • (1983)
  • (1976)

Biomedical Diagnostic Center (CDB)

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