Belén Pérez

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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

Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in<i>PAH</i>

Ángel L. Pey, Lourdes R. Desviat, Alejandra Gámez et al. · Human Mutation · 2003 · 138 citations · Full text

Life Sciences, Biochemistry, Genetics +17

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

Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria

Sarah Wettstein, Jarl Underhaug, Belén Pérez et al. · European Journal of Human Genetics · 2014 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16