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Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactorAn exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuriaNew Strategies for the Treatment of Phenylketonuria (PKU)Phenylketonuria: translating research into novel therapiesInfluence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.Persistence of the common Hartnup disease D173N allele in populations of European origin.Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.Founder mutations among the Dutch.Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.An ancient founder mutation in PROKR2 impairs human reproduction.A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and heightMolecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran.Interpreting noncoding genetic variation in complex traits and human disease.Screening of three Mediterranean phenylketonuria mutations in Tunisian families.Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuriaMutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria.Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.Parkinsonism in Inherited Metabolic Disorders: Key Considerations and Major Features
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Phenylketonuria mutations in Europe.
@ast
Phenylketonuria mutations in Europe.
@en
type
label
Phenylketonuria mutations in Europe.
@ast
Phenylketonuria mutations in Europe.
@en
prefLabel
Phenylketonuria mutations in Europe.
@ast
Phenylketonuria mutations in Europe.
@en
P356
P1433
P1476
Phenylketonuria mutations in Europe.
@en
P2093
Johannes Zschocke
P304
P356
10.1002/HUMU.10192
P577
2003-04-01T00:00:00Z