Xcode Life

Condition: Classical phenylketonuria

rs1037293795 in PAH gene and Classical phenylketonuria

PMID 24350308 2013 Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.

PMID 22763404 2012 Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.

PMID 25085675 2014 Abstracts of the SSIEM 2014 Annual Symposium, 2-5 September, 2014, Innsbruck, Austria.

PMID 21915151 2012 Clinical utility gene card for: Phenylketonuria.

PMID 24667081 2014 Phenylketonuria Scientific Review Conference: state of the science and future research needs.

PMID 24385074 2014 Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

PMID 8304187 1993 Expression of wild type and mutant forms of human phenylalanine hydroxylase in E. coli.

PMID 7913581 1994 Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

PMID 23430918 2012 Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

PMID 9799096 1998 The molecular basis for the metabolic defect in patients with phenylketonuria has been characterized for seven missense point mutations (R252G/Q, L255V/S, A259V/T and R270S) and a termination mutation (G272X) in an evolutionarily conserved motif of exon 7 in the catalytic domain of the human phenylalanine hydroxylase (hPAH) gene.

PMID 21953985 2012 Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

PMID 23357515 2013 Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

PMID 8830172 1996 PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.

PMID 16176881 2005 Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.

PMID 18299955 2008 Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

PMID 10479481 1999 The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.

PMID 26666653 2015 Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

PMID 2035532 1991 Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

PMID 24368688 2014 The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

PMID 20188615 2010 Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.

PMID 27121329 2016 Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

PMID 18538294 2008 Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

PMID 9792411 1998 Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).

PMID 9950317 1999 Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

PMID 8068076 1993 Identification of a new missense mutation in Japanese phenylketonuric patients.

PMID 1671810 1991 Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

PMID 9101291 1997 Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.

PMID 9452061 1998 Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.

PMID 22513348 2012 Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

PMID 9048935 1997 Two novel PAH gene mutations detected in Italian phenylketonuric patients.

PMID 1672294 1991 Phenylketonuria missense mutations in the Mediterranean.

PMID 8889590 1996 Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.

PMID 1672290 1991 Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

PMID 9792407 1998 Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.

PMID 1363838 1992 A new PKU mutation associated with haplotype 12.

PMID 11326337 2001 Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.

PMID 1363837 1992 A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.

PMID 1355066 1992 Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

PMID 9452062 1998 Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.

PMID 10679941 2000 Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

PMID 12501224 2002 Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

PMID 10541324 1999 Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population.

PMID 11385716 2001 Molecular analysis of phenylketonuria (PKU) in newborns from Texas.

PMID 11678552 2001 Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.

PMID 11180595 2001 Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.

PMID 12655553 2003 Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

PMID 10598814 1999 Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.

PMID 10527663 1999 The structural basis of phenylketonuria.

PMID 10394930 1999 Phenylketonuria mutations in Germany.

PMID 17096675 2007 Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

PMID 17924342 2007 Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

PMID 19786003 2010 Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.

PMID 23514811 2013 Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 8659548 1996 Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

PMID 21147011 2011 Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

PMID 8268925 1993 Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

PMID 1301187 1992 Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

PMID 9634518 1998 A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

PMID 23932990 2013 Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

PMID 28754886 2017 The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

PMID 26503515 2015 Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

PMID 18294361 2008 A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

PMID 21307867 2011 Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.

PMID 26481238 2016 A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.

PMID 20179079 2010 Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.

PMID 23764561 2013 Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

PMID 28653649 2017 Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.

PMID 25456745 2014 Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

PMID 26322415 2015 Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

PMID 9521426 1998 Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

PMID 26542770 2016 Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

PMID 26210745 2015 Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

PMID 19609714 2009 Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.

PMID 19394257 2009 Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.

PMID 23792259 2013 Mutation analysis in hyperphenylalaninemia patients from South Italy.

PMID 23500595 2013 Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

PMID 8406445 1993 Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

PMID 19292873 2009 Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.

PMID 16256386 2005 Phenylketonuria mutations in Northern China.

PMID 17935162 2008 Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 12655550 2003 The molecular basis of phenylketonuria in Lithuania.

PMID 1682235 1991 A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.

PMID 18346471 2008 Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.

PMID 23856132 2013 Mutation spectrum of phenylketonuria in Syrian population: genotype-phenotype correlation.

PMID 11524738 2001 Molecular basis of phenylketonuria in Cuba.

PMID 15503242 2004 The molecular basis of phenylketonuria in Koreans.

PMID 18798839 2008 PKU in Minas Gerais State, Brazil: mutation analysis.

PMID 26413448 2015 Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.

PMID 19147918 2008 Mutation characteristics of the PAH gene in four nationality groups in Xinjiang of China.

PMID 20920871 2011 Mutation spectrum of phenylketonuria in Iranian population.

PMID 15464430 2005 Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.

PMID 21871829 2011 Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.

PMID 12836060 2003 A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 24301756 2013 A preliminary mutation analysis of phenylketonuria in southwest Iran.

PMID 26600521 2015 Prenatal diagnosis of Chinese families with phenylketonuria.

PMID 23716935 2012 Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran.

PMID 23842451 2013 Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

PMID 24190797 2014 Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.

PMID 19915519 2010 Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.

PMID 1363786 1992 Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?

PMID 10693064 1999 Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.

PMID 1639423 1992 Identification of three novel missense PKU mutations among Chinese.

PMID 24661517 2014 [Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].

PMID 21811977 2011 [Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].

PMID 9575658 1997 [Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].

PMID 9949232 1999 [Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan].

PMID 7844887 1994 Two new mutations (R241C and G247V) and two of the known mutant alleles (Y204C and R243Q) were found in two Taiwanese and two Chinese PKU patients, and three known mutations (R111X, Y204C and R413P) were recognized in three Japanese; two new mutations were identified in exon 7 of the PAH gene at codon 241 and codon 247, where the single base changes from C to T and from G to T substituted cysteine for arginine and valine for glycine, respectively.

PMID 8682503 1996 Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt.

PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 9012412 1997 Sequence variation at the phenylalanine hydroxylase gene in the British Isles.

PMID 22526846 2013 Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

PMID 22112818 2012 START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.

PMID 11161839 2001 In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation.

PMID 9359039 1998 Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.

PMID 7766951 1994 Spectrum and origin of phenylketonuria mutations in Spain.

PMID 24941924 2015 Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.

PMID 27413125 2016 Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

PMID 23271928 2012 Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.

PMID 21154324 2010 [The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province].

PMID 21462123 2011 [Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].

PMID 19099685 2008 [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].

PMID 20140859 2010 [Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].

PMID 11214902 2001 A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.

PMID 1997387 1991 PAH 399 GTA (Val)----GTT(Val), a new silent mutation found in the Chinese.

PMID 20017307 2009 [Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].

PMID 23225039 2012 [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].

PMID 14722928 2004 Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

PMID 24401910 2014 The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

PMID 27264808 2016 [Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].

PMID 9284280 1997 Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria.

PMID 9391881 1997 Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

PMID 23430547 2013 Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

PMID 22841515 2012 Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

PMID 16879198 2006 Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.

PMID 22330942 2012 The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.

PMID 7726156 1995 Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.

PMID 1358789 1992 Molecular basis for nonphenylketonuria hyperphenylalaninemia.

PMID 18538294 2008 To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).

PMID 11935335 2002 Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

PMID 9298832 1997 Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3.

PMID 9852673 1998 Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.

PMID 8098245 1993 Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

PMID 30367646 2018 White matter microstructural damage in early treated phenylketonuric patients.

PMID 8088845 1994 Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

PMID 26655635 2016 Psychiatric disorders in adolescent and young adult patients with phenylketonuria.

PMID 12649065 2003 DHPLC mutation analysis of phenylketonuria.

PMID 24789341 2014 Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.

PMID 21445337 2011 Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.

PMID 22388642 2012 Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.

PMID 8807331 1996 DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations.

PMID 10429004 1999 Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.

PMID 25894915 2015 Mutational spectrum of phenylketonuria in Jiangsu province.

PMID 23062575 2012 Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.

PMID 18590700 2008 Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions.

PMID 12655554 2003 Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.

PMID 26589311 2016 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

PMID 23690520 2013 Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.

PMID 23559577 2013 Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

PMID 8981952 1997 Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

PMID 16051511 2005 Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.

PMID 17408607 2007 BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.

PMID 10234516 1999 Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

PMID 27308838 2017 Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

PMID 25550961 2014 Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.

PMID 29176022 2017 Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China.

PMID 7833954 1994 Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.

PMID 11244681 2001 [Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene].

PMID 23942198 2014 Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

PMID 28982351 2017 Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

PMID 29390883 2018 Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.

PMID 8807319 1996 Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

PMID 18538294 2008 To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).

PMID 15589814 2004 Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

PMID 12971421 2003 Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.

PMID 15557004 2004 Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.

PMID 12905706 2003 [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].

PMID 18247293 2008 [In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene].

PMID 25551302 2015 Plasma cholesterol in adults with phenylketonuria.

PMID 18937047 2009 Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.

PMID 9450897 1998 In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.

PMID 7914195 1994 Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function.

PMID 29997390 2019 Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

PMID 29499199 2018 Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

PMID 26982749 2016 Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.

PMID 30311390 2018 Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

PMID 24882081 2014 Molecular genetics and diagnosis of phenylketonuria: state of the art.

PMID 24939588 2015 Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

PMID 22921945 2012 New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness.

PMID 30050108 2018 Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.

PMID 28771436 2017 Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.

PMID 30747360 2019 Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.

PMID 16198137 2005 Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.

PMID 11708866 2001 PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis.

PMID 9429153 1997 Molecular basis of mild hyperphenylalaninaemia in Poland.

PMID 17502162 2007 Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.

PMID 12655552 2003 The molecular basis of phenylalanine hydroxylase deficiency in Croatia.

PMID 18985011 2008 Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.

PMID 9781015 1998 Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.

PMID 24048906 2014 Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.

PMID 11461190 2001 Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.

PMID 16879198 2006 We found that the most frequent mutation, L48S, was exclusively associated with the classical (severe) PKU phenotype.

PMID 1679030 1991 The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.

PMID 9399896 1997 Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

PMID 25596310 2015 Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.

PMID 2606484 1989 Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

PMID 2014036 1991 Molecular basis of phenotypic heterogeneity in phenylketonuria.

PMID 14654665 2003 Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.

PMID 19036622 2009 The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.

PMID 12655546 2003 Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

PMID 8533759 1995 Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

PMID 11588399 2001 Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.

PMID 16601866 2006 The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.

PMID 7981714 1994 Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.

PMID 10196714 1999 Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

PMID 8535444 1995 Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.

PMID 8320703 1993 Comparison of genotype and intellectual phenotype in untreated PKU patients.

PMID 11486900 2001 Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

PMID 14741196 2004 Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.

PMID 2309142 1990 Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.

PMID 24130151 2014 Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.

PMID 23074961 2012 [Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].

PMID 11461196 2001 A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.

PMID 20082265 2010 Variations in genotype-phenotype correlations in phenylketonuria patients.

PMID 9799096 1998 The molecular basis for the metabolic defect in patients with phenylketonuria has been characterized for seven missense point mutations (R252G/Q, L255V/S, A259V/T and R270S) and a termination mutation (G272X) in an evolutionarily conserved motif of exon 7 in the catalytic domain of the human phenylalanine hydroxylase (hPAH) gene.

PMID 8831077 1996 Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

PMID 8116675 1994 These studies uncovered 10 "classical PKU" patients to be homozygous for a R252W (CGG-TGG) transition, and 29 heterozygous carriers of this mutation.

PMID 2574153 1989 CpG dinucleotides are mutation hot spots in phenylketonuria.

PMID 16765994 2006 The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.

PMID 12409276 2002 Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.

PMID 16755493 2006 Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.

PMID 19062537 2008 Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.

PMID 12765842 2003 Molecular characterization of phenylketonuria in South Brazil.

PMID 1682234 1991 Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.

PMID 11696894 2000 [Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region].

PMID 20187763 2010 Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.

PMID 10471838 1999 In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X.

PMID 19444284 2009 A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

PMID 1563085 1992 Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.

PMID 25155776 2014 The complexity of newborn screening follow-up in phenylketonuria.

PMID 15171997 2004 The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 27682710 2016 Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

PMID 26803807 2016 Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.

PMID 18538294 2008 To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).

PMID 18956252 2009 Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

PMID 8990013 1997 Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34.

PMID 1769645 1991 Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.

PMID 1601425 1992 Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.

PMID 24296287 2014 Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.

PMID 22300847 2012 Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

PMID 21820508 2011 Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.

PMID 12640344 2003 Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.

PMID 12409276 2002 The detection of the A403V amino acid substitution in combination with null mutations in patients with BH4-responsive PAH deficiency leads us to correlate it with BH4 responsiveness.

PMID 12644360 2003 Phenylalanine hydroxylase gene in psychiatric patients: screening and functional assay of mutations.

PMID 8739972 1996 Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.

PMID 2884570 1987 An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

PMID 1671768 1991 The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria.

PMID 8097262 1993 Genetic background of clinical homogeneity of phenylketonuria in Poland.

PMID 18538294 2008 To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).

PMID 12173030 2002 The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.

PMID 1609797 1992 Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

PMID 1971147 1990 Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

PMID 9860305 1998 Molecular characterization of phenylketonuria in Japanese patients.

PMID 1301200 1992 Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.

PMID 10471838 1999 In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X.

PMID 1312992 1992 PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

PMID 20063067 2010 Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.

PMID 18538294 2008 To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).

PMID 2044609 1991 A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.

PMID 8556304 1995 Characterization of phenylketonuria alleles in the Italian population.

PMID 12655544 2003 Phenylketonuria mutations in Europe.

PMID 11914042 2002 Mental illness in mild PKU responds to biopterin.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 3615198 1987 GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.

PMID 24078561 2013 [Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].

PMID 9540801 1998 Structure/function analysis of the domains required for the multimerisation of phenylalanine hydroxylase.

PMID 23220018 2013 Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.

PMID 7766957 1994 Ectopic transcription: an application to the analysis of splicing errors in phenylalanine hydroxylase mRNA.

PMID 24705691 2014 Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

PMID 8364593 1993 Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.

PMID 21890392 2011 The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.

PMID 8860005 1997 Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes.

PMID 30389586 2019 A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients.

PMID 22698810 2012 Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

PMID 16165389 2005 Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.

PMID 10408782 1999 Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.

PMID 19015950 2008 Quality of diagnostic mutation analyses for phenylketonuria.

PMID 23672685 2013 Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.

PMID 8051931 1994 Molecular and population genetics of phenylketonuria in Orientals: correlation between phenotype and genotype.

PMID 27264808 2016 Patients who were heterozygous for EX6-96A>G/R241C, R243Q/A434D, EX6-96A>G/R413P and EX6-96A>G/ R241C were found with both the classic PKU and mild PKU phenotypes.

PMID 2071149 1991 Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.

PMID 15793771 2005 [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].

PMID 11139255 2001 Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.

PMID 1301193 1992 Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.

PMID 2063869 1991 Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.

PMID 7860062 1995 The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.

PMID 8095248 1993 A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.

PMID 10495930 1999 Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.

PMID 27175728 2016 Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

PMID 29144512 2018 Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.

PMID 20123475 2010 Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin.

PMID 10767174 2000 The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.

PMID 14726806 2004 Biopterin responsive phenylalanine hydroxylase deficiency.

PMID 24667082 2014 Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.

PMID 1971144 1990 Recurrent mutation in the human phenylalanine hydroxylase gene.

PMID 9101291 1997 The E280K mutation in exon 7 of the PAH gene is a cause of phenylketonuria.

PMID 2564729 1989 This point mutation (280glu----lys) was found by sequencing a mutant cDNA clone derived from a needle biopsy of the liver in a child with variant form of phenylketonuria.

PMID 27243974 2016 Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

PMID 25882749 2015 6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype.

PMID 18538294 2008 To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).

PMID 21527427 2011 The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.

PMID 9048935 1997 We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients.

PMID 1709636 1991 A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.

PMID 20217238 2010 Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.

PMID 20457534 2010 The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.

PMID 8222245 1993 Phenylketonuria mutant alleles in different populations: missense mutation in exon 7 of phenylalanine hydroxylase gene.

PMID 8632937 1996 Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.

PMID 16253218 2006 Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.

PMID 14681498 2004 Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.

PMID 2564729 1989 Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

PMID 11161825 2001 Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).

PMID 25863075 2015 [Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].

PMID 26351554 2015 Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.

PMID 22333022 2011 [Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].

PMID 2574002 1989 Novel PKU mutation on haplotype 2 in French-Canadians.

PMID 1301201 1992 In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.

PMID 1301947 1992 A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.

PMID 16290003 2005 Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.

PMID 7844887 1994 Two new mutations (R241C and G247V) and two of the known mutant alleles (Y204C and R243Q) were found in two Taiwanese and two Chinese PKU patients, and three known mutations (R111X, Y204C and R413P) were recognized in three Japanese; two new mutations were identified in exon 7 of the PAH gene at codon 241 and codon 247, where the single base changes from C to T and from G to T substituted cysteine for arginine and valine for glycine, respectively.

PMID 8990021 1997 Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C).

PMID 11708866 2001 In contrast, discordant metabolic phenotypes (mild PKU and MHP) were observed in two unrelated patients bearing the same R261Q/P211T genotype, a finding which underscores the complex relationship linking genotype to phenotype in PAH deficiency.

PMID 1975559 1990 Two mutations within the coding sequence of the phenylalanine hydroxylase gene.

PMID 1978553 1990 A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.

PMID 10471838 1999 In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X.

PMID 1671881 1991 Two distinct mutations at a single BamHI site in phenylketonuria.

PMID 27469133 2017 The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

PMID 18937047 2009 The p.L348V and p.P416Q enzymes retain significant catalytic activity yet were observed in classic and moderate PKU patients.

PMID 7545869 1995 L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis.

PMID 10471838 1999 In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X.

PMID 1349576 1992 Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.

PMID 7915167 1994 Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts.

PMID 16167124 2005 SSIEM 42st Annual Symposium, Paris, France, 6-9 September, 2005. Abstracts.

PMID 25757997 2015 Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.

PMID 7668259 1995 Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.

PMID 7581408 1995 Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation.

PMID 11999982 2002 We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare their phenylalanine hydroxylase (PAH) genotypes (A395P/ IVS12+g>a and R261Q/165T, respectively) to those of previous cases from the literature.

PMID 18493213 2008 Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.

PMID 11142755 2000 Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.

PMID 15943553 2005 Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening.

PMID 12126628 2002 Crystal structure of the ternary complex of the catalytic domain of human phenylalanine hydroxylase with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine, and its implications for the mechanism of catalysis and substrate activation.

PMID 25952249 2016 Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study.

PMID 7741023 1995 Molecular genetics of phenylketonuria: from molecular anthropology to gene therapy.

PMID 10947211 2000 Molecular basis of mild hyperphenylalaninaemia in Turkey.

PMID 26701937 2016 Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four.

PMID 10356315 1999 Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.

PMID 8535445 1995 Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatch.

PMID 8097423 1993 A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.

PMID 18538294 2008 To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).

PMID 25563416 2015 Dictyostelium discoideum Ax2 as an Assay System for Screening of Pharmacological Chaperones for Phenylketonuria Mutations.

PMID 8592329 1995 Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.

PMID 1146119 1975 [Functional results of reconstructive laryngectomy].

PMID 11708866 2001 In order to improve our understanding of the clinical heterogeneity of PAH deficiency in this population, we have for the first time analyzed three missense mutations L41F, T92I, and P211T in vitro by the pCDNA3/COS-7 eukaryotic expression system and found an activity of 10, 76, and 72%, respectively, compared to normal PAH.

PMID 12655551 2003 The molecular basis of phenylketonuria in Latvia.

PMID 7556322 1995 In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.

PMID 9799096 1998 Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.

PMID 24510568 2014 Thirty eight mutations, locating in exon2-exon12 and the flanking sequence, were detected in the 55 PKU patients. p.R243Q (24.49%) was the commonest mutation, whilstp.A47E, p.I65S and p.A259T were first discovered in China.

PMID 10980574 2000 Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.

PMID 9642259 1998 Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.

PMID 15459954 2004 Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.

PMID 16504182 2006 Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.

PMID 10685924 2000 Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia.

PMID 2840952 1988 Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.

PMID 27620137 2016 In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

PMID 25333069 2014 Disease variants in genomes of 44 centenarians.

PMID 7609462 1993 Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.

PMID 8019568 1994 Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.

PMID 11243094 1997 Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.

PMID 24765287 2011 Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?

PMID 25750018 2015 Computational study of missense mutations in phenylalanine hydroxylase.

PMID 1349566 1992 Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

PMID 18394115 2008 Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria.

PMID 28174686 2017 PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain.

PMID 25920592 2015 A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.

PMID 20937381 2011 Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.

PMID 8829656 1996 PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.

PMID 10356314 1999 Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.

PMID 1307609 1992 [Genetic diagnosis of phenylketonuria: identification of the mutations of phenylalanine hydroxylase gene by PCR direct sequencing].

PMID 1301201 1992 Homozygosity for M1V and codominant inheritance of I65T/R408W were both associated with classical phenylketonuria.

PMID 15159646 2004 Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.

PMID 1975096 1990 Prenatal detection of an Arg----Ter mutation at codon 111 of the PAH gene using DNA amplification.

PMID 2816939 1989 Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

PMID 12542580 2003 Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene.

PMID 17513426 2007 Response of phenylketonuria to tetrahydrobiopterin.

PMID 16143554 2005 Response of patients with phenylketonuria in the US to tetrahydrobiopterin.

PMID 11051201 2000 In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.

PMID 9540801 1998 Furthermore, we report that an alanine 447 to aspartate mutation associated with phenylketonuria may affect subunit assembly which suggests the formation of enzyme tetramers is physiologically relevant.

PMID 14722928 2004 Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

PMID 15319459 2004 In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 12554741 2003 Deamidations in recombinant human phenylalanine hydroxylase. Identification of labile asparagine residues and functional characterization of Asn --> Asp mutant forms.

PMID 7707686 1994 Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.

PMID 19948162 2010 Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.

PMID 12409276 2002 Molecular analysis in 23 Italian patients with PAH deficiency identified two novel (P281R, L287V) and 20 previously described genetic lesions in the PAH gene.

PMID 1301942 1992 A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.

PMID 8825928 1995 Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.