Magdalena Ugarte

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling et al. · The American Journal of Human Genetics · 2011 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

Christiane Busquets, B. Merinero, Ernst Christensen et al. · Pediatric Research · 2000 · 133 citations

Life Sciences, Genetics, Molecular Genetics +8

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