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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
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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
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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
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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
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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
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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
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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
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Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl‐CoA carboxylase, a heteropolymeric mitochondrial enzyme involved in the catabolism of branched chain aminoExpand
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Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
Tetrahydrobiopterin (BH4) responsiveness in patients with mutations in the phenylalanine hydroxylase (PAH) gene is a recently recognized subtype of hyperphenylalaninemia characterized by a positiveExpand
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Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Isolated methylmalonic aciduria (MMA) is an inborn error of metabolism due to the impaired isomerization of l-methylmalonyl-CoA to succinyl-CoA. This reaction is catalyzed by the mitochondrialExpand
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