QUÍMICA FÍSICA
Departamento
Lourdes
Ruiz Desviat
Publicaciones en las que colabora con Lourdes Ruiz Desviat (3)
2004
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Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
Proceedings of the National Academy of Sciences of the United States of America, Vol. 101, Núm. 48, pp. 16903-16908
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Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations
Human Mutation, Vol. 24, Núm. 5, pp. 388-399
2003
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Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH
Human Mutation, Vol. 21, Núm. 4, pp. 370-378