Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia

scientific article published in PLoS ONE

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia is …
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scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PONE.0211048
P932PMC publication ID6342299
P698PubMed publication ID30668579

P50authorPolina GundorovaQ90690790
P2093author name stringSergey I Kutsev
Irina A Kuznetsova
Aleksander V Polyakov
Anna A Stepanova
P2860cites workRelative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplificationQ24530153
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTSQ28191062
The molecular basis of phenylketonuria in KoreansQ34361713
Phenylketonuria: an inborn error of phenylalanine metabolism.Q34787712
Phenylketonuria mutations in EuropeQ35091570
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencingQ36209473
The PAH gene, phenylketonuria, and a paradigm shiftQ36795399
Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western IranQ36851062
Sapropterin dihydrochloride for the treatment of hyperphenylalaninemiasQ38109232
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.Q50568878
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase geneQ57715646
Neonatal screening in Europe; the situation in 2004Q80580230
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU populationQ82830573
Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan provinceQ83775160
[Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province]Q87095283
Molecular genetics and diagnosis of phenylketonuria: state of the art.Q38216515
A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria populationQ38826743
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli populationQ39195239
Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activityQ41251171
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.Q41334660
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuriaQ41571007
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuriaQ41820914
The complete European guidelines on phenylketonuria: diagnosis and treatment.Q42376686
Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of IranQ43029812
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48SQ43185736
Genetic diversity within the R408W phenylketonuria mutation lineages in EuropeQ44375040
The molecular basis of phenylketonuria in LithuaniaQ44375048
The molecular basis of phenylketonuria in LatviaQ44375052
The molecular basis of phenylalanine hydroxylase deficiency in CroatiaQ44375054
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsivenessQ44742429
Mutation spectrum of phenylketonuria in Syrian population: Genotype–phenotype correlationQ45783482
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in JapanQ45889902
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.Q46036991
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.Q46868957
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyQ46952232
Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and MontenegroQ48085712
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectRussiaQ159
phenylketonuriaQ194041
P304page(s)e0211048
P577publication date2019-01-22
P1433published inPLOS OneQ564954
P1476titleGenotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia
P478volume14

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Q100992983Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliancecites workP2860

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