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  • Heidi Erlandsen, Angel L Pey, +11 authors Raymond C. Stevens
  • Chemistry, Medicine
  • Proceedings of the National Academy of Sciences…
  • 2004 (First Publication: 30 November 2004)
  • Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of blood phenylalanine levels upon oral administration of the PAH cofactorContinue Reading
  • Angel L Pey, Lourdes R Desviat, Alejandra Gámez, Magdalena Ugarte, Belén Pérez
  • Medicine, Biology
  • Human mutation
  • 2003 (First Publication: 1 April 2003)
  • When analyzed in the context of the phenylalanine hydroxylase (PAH) three-dimensional structure, only a minority of the PKU mutations described world-wide affect catalytic residues. Consistent withContinue Reading
  • Lourdes R Desviat, Belén Pérez, Celia Pérez-Cerdá, P Rodríguez-Pombo, Sara Blanc Clavero, Magdalena Ugarte
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2004 (First Publication: 1 September 2004)
  • Mutations in the PCCA or PCCB genes, encoding both subunits of propionyl-CoA carboxylase, result in propionic acidemia, a life-threatening inborn error of metabolism with autosomal recessiveContinue Reading
  • Lourdes R Desviat, Belén Pérez, +6 authors Magdalena Ugarte
  • Medicine
  • Molecular genetics and metabolism
  • 2004 (First Publication: 1 September 2004)
  • Tetrahydrobiopterin (BH4) responsiveness in patients with mutations in the phenylalanine hydroxylase (PAH) gene is a recently recognized subtype of hyperphenylalaninemia characterized by a positiveContinue Reading
  • Luis Aldámiz-Echevarría, Marta Llarena, +17 authors María Luz Couce
  • Biology, Medicine
  • Journal of Human Genetics
  • 2016 (First Publication: 1 August 2016)
  • Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, is caused by mutations in the phenylalanine-4-hydroxylase (PAH) gene. This study aimed to assess the genotype–phenotypeContinue Reading