Publications by the researcher in collaboration with Lourdes Ruiz Desviat (6)

2019

  1. COST Actions: fostering collaborative research for rare diseases

    The Lancet Neurology

2013

  1. Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain

    Journal of Human Genetics, Vol. 58, Núm. 5, pp. 279-284

2008

  1. Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población Española

    Medicina Clinica, Vol. 131, Núm. 3, pp. 81-88

2006

  1. Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR geness: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

    American Journal of Medical Genetics, Vol. 140 A, Núm. 9, pp. 987-997

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

1997

  1. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

    European Journal of Human Genetics, Vol. 5, Núm. 4, pp. 196-202