Pediatría
Departamento
Lourdes
Ruiz Desviat
Publicaciones en las que colabora con Lourdes Ruiz Desviat (6)
2019
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COST Actions: fostering collaborative research for rare diseases
The Lancet Neurology
2013
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Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain
Journal of Human Genetics, Vol. 58, Núm. 5, pp. 279-284
2008
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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
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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
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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
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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