Cristina Aguado

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

Heidi Erlandsen, Ángel L. Pey, Alejandra Gámez et al. · Proceedings of the National Academy of Sciences · 2004 · 173 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +16

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

Ángel L. Pey, Belén Pérez, Lourdes R. Desviat et al. · Human Mutation · 2004 · 125 citations

Life Sciences, Genetics, Molecular Genetics +15

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype

Lourdes R. Desviat, Belén Pérez, Amaya Bélanger-Quintana et al. · Molecular Genetics and Metabolism · 2004 · 65 citations

Life Sciences, Biochemistry, Pharmacology +7

Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence

Cristina Aguado, Magdalena Gayà‐Vidal, Sergi Villatoro et al. · PLoS Genetics · 2014 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Regional variations in test requiring patterns of general practitioners in Spain

María Salinas, Maite López‐Garrigós, Julián Ruiz Díaz et al. · Upsala Journal of Medical Sciences · 2011 · 39 citations · Full text

Nursing, Health Services Administration, Health Systems +14