• Publications
  • Influence
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of blood phenylalanine levels upon oral administration of the PAH cofactorExpand
  • 156
  • 13
  • PDF
Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAH
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 withExpand
  • 117
  • 7
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations
A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor (tetrahydrobiopterin, BH4) supplementation has been associated with phenylketonuria (PKU) mutations. The underlyingExpand
  • 118
  • 6
  • PDF
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
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 recessiveExpand
  • 72
  • 5
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). TheExpand
  • 63
  • 5
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Propionic acidemia is an inherited metabolic disease caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC), one of the four biotin-dependent enzymes. PCC is aExpand
  • 58
  • 5
Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria
The wide range of metabolic phenotypes in phenylketonuria is due to a large number of variants causing variable impairment in phenylalanine hydroxylase function. A total of 834 phenylalanineExpand
  • 49
  • 5
  • PDF
Expression Analysis of Phenylketonuria Mutations
Phenylketonuria is an autosomal recessive human genetic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. In the present work we have used different expression systems toExpand
  • 71
  • 4
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
Recent years have seen great advances in our knowledge of congenital disorders of glycosylation (CDG), a clinically and biochemically heterogeneous group of genetic diseases caused by defects in theExpand
  • 44
  • 4
Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria
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–phenotypeExpand
  • 20
  • 4