about
The application of 8-aminoguanosine triphosphate, a new inhibitor of GTP cyclohydrolase I, to the purification of the enzyme from human liverAchondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter geneTetrahydrobiopterin biosynthesis, regeneration and functionsHyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).Clinical and molecular phenotype of Aicardi-Goutieres syndromePhenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequenceSerine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase IIUse of a ruthenium(III), iron(II), and nickel(II) hexacyanometallate-modified graphite electrode with immobilized oxalate oxidase for the determination of urinary oxalateDwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterinMutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemiaChromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthaseCharacterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alphaExpression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activityDiagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia.The neurochemistry of phenylketonuria.Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaUrinary oxalate excretion in urolithiasis and nephrocalcinosisNew approaches to treat PKU: how far are we?Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.Tetrahydrobiopterin as another EDRF in man.Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.Molecular genetics and diagnosis of phenylketonuria: state of the art.Biosynthesis and significance of neopterin in the immune system.Genetics of Phenylketonuria: Then and Now.Key European guidelines for the diagnosis and management of patients with phenylketonuria.
P50
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P50
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Nenad Blau
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Nenad Blau
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P21
P213
0000 0001 0936 8854
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P31
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0000-0003-4347-3230
P569
2000-01-01T00:00:00Z
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lccn-n87864896