Lourdes R. Desviat

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

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the<i>PPM</i><i>1</i><i>K</i>Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Alfonso Oyarzábal, Mercedes Martínez‐Pardo, B. Merinero et al. · Human Mutation · 2012 · 120 citations

Life Sciences, Genetics, Molecular Genetics +16