Publications in collaboration with researchers from Hospital Universitario Virgen de las Nieves (4)

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2017

  1. Actividad asistencial y costes en los últimos 3 meses de vida de pacientes fallecidos con cáncer en Euskadi

    Gaceta Sanitaria, Vol. 31, Núm. 6, pp. 524-530

2011

  1. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

    Neurogenetics, Vol. 12, Núm. 3, pp. 183-191

2007

  1. Multicentre physiological reference intervals for serum concentrations of immunoglobulins A, G and M, complement C3c and C4 measured with Tina-Quant® reagents systems

    Clinical Chemistry and Laboratory Medicine