Publications by the researcher in collaboration with María Belén Pérez González (5)

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2016

  1. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2013

  1. Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

    Gene, Vol. 521, Núm. 1, pp. 100-104

2007

  1. The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.

    Journal of inherited metabolic disease, Vol. 30, Núm. 5, pp. 812

1999

  1. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions

    European Journal of Human Genetics, Vol. 7, Núm. 3, pp. 386-392