{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T02:07:40Z","timestamp":1784081260220,"version":"3.55.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,9,1]],"date-time":"2013-09-01T00:00:00Z","timestamp":1377993600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"ERDF"},{"name":"Comenius University"},{"name":"313\/2009"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,9]]},"DOI":"10.1016\/j.gene.2013.05.057","type":"journal-article","created":{"date-parts":[[2013,6,10]],"date-time":"2013-06-10T16:02:34Z","timestamp":1370880154000},"page":"347-355","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Phenylalanine hydroxylase deficiency in the Slovak population: Genotype\u2013phenotype correlations and genotype-based predictions of BH4-responsiveness"],"prefix":"10.1016","volume":"526","author":[{"given":"Emil","family":"Polak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrej","family":"Ficek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Radvanszky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Soltysova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Otto","family":"Urge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Cmelova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Kantarska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludevit","family":"Kadasi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.05.057_bb0115","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.gene.2013.05.057_bb0180","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ymgme.2008.02.007","article-title":"Single exon deletions in the PAH gene in Polish PKU-patients","volume":"94","author":"Bik-Multanowski","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0070","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.ymgme.2009.01.002","article-title":"Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria","volume":"96","author":"Blau","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0015","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/S0140-6736(10)60961-0","article-title":"Phenylketonuria","volume":"376","author":"Blau","year":"2010","journal-title":"Lancet"},{"key":"10.1016\/j.gene.2013.05.057_bb0135","doi-asserted-by":"crossref","first-page":"81","DOI":"10.3858\/emm.2010.42.2.009","article-title":"Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics","volume":"42","author":"Cali","year":"2010","journal-title":"Exp. Mol. Med."},{"key":"10.1016\/j.gene.2013.05.057_bb0075","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1016\/j.bbadis.2011.07.012","article-title":"Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium","volume":"1812","author":"Cerreto","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.gene.2013.05.057_bb0050","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1006\/mgme.2000.3052","article-title":"Modifier genes convert \u201csimple\u201d Mendelian disorders to complex traits","volume":"71","author":"Dipple","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0110","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.ymgme.2007.03.010","article-title":"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","volume":"91","author":"Dobrowolski","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0170","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/jhg.2009.37","article-title":"A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin","volume":"54","author":"Dobrowolski","year":"2009","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0035","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2010.11.158","article-title":"Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population","volume":"102","author":"Dobrowolski","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0165","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1159\/000472200","article-title":"Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway","volume":"4","author":"Eiken","year":"1996","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0095","first-page":"139","article-title":"A unique RFLP haplotype at the phenylalanine hydroxylase locus in Czechoslovak Gypsies with phenylketonuria","volume":"2","author":"Ferakova","year":"1992","journal-title":"Funct. Dev. Morphol."},{"key":"10.1016\/j.gene.2013.05.057_bb0040","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.ymgme.2012.03.015","article-title":"Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene","volume":"106","author":"Groselj","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0160","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1006\/geno.1993.1295","article-title":"Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis","volume":"17","author":"Guldberg","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.gene.2013.05.057_bb0010","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1086\/301920","article-title":"A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype","volume":"63","author":"Guldberg","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"Suppl. 2","key":"10.1016\/j.gene.2013.05.057_bb0030","doi-asserted-by":"crossref","first-page":"S150","DOI":"10.1007\/PL00014381","article-title":"Mutation analysis anticipates dietary requirements in phenylketonuria","volume":"159","author":"Guttler","year":"2000","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.gene.2013.05.057_bb0140","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/BF00202402","article-title":"The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria","volume":"86","author":"Jaruzelska","year":"1991","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0100","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/BF00225087","article-title":"PKU in Slovakia: mutation screening and haplotype analysis","volume":"95","author":"Kadasi","year":"1995","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0175","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/ajmg.1320490215","article-title":"Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia","volume":"49","author":"Kalanin","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0145","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.ymgme.2009.03.009","article-title":"Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency","volume":"97","author":"Karacic","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0025","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1086\/301638","article-title":"Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype\u2013phenotype correlations","volume":"61","author":"Kayaalp","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0120","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.ymgme.2006.06.007","article-title":"Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement","volume":"89","author":"Kozak","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0080","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0022-3476(99)70138-1","article-title":"Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency","volume":"135","author":"Kure","year":"1999","journal-title":"J. Pediatr."},{"key":"10.1016\/j.gene.2013.05.057_bb0210","first-page":"59","article-title":"Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria","volume":"34","author":"Nechiporenko","year":"2000","journal-title":"Tsitol. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0065","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1086\/521879","article-title":"Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases","volume":"81","author":"Pey","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0105","first-page":"528","article-title":"Complex mutational analysis of the PAH gene in Slovak patients affected by phenylketonuria","volume":"63","author":"Polak","year":"2008","journal-title":"Ceska Slov. Pediatr."},{"key":"10.1016\/j.gene.2013.05.057_bb0205","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cca.2013.01.006","article-title":"Hyperphenylalaninemia in the Czech Republic: genotype\u2013phenotype correlations and in silico analysis of novel missense mutations","volume":"419","author":"Reblova","year":"2013","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.gene.2013.05.057_bb0005","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1002\/humu.20526","article-title":"The PAH gene, phenylketonuria, and a paradigm shift","volume":"28","author":"Scriver","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.05.057_bb0055","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0168-9525(99)01761-8","article-title":"Monogenic traits are not simple: lessons from phenylketonuria","volume":"15","author":"Scriver","year":"1999","journal-title":"Trends Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0090","doi-asserted-by":"crossref","first-page":"2628","DOI":"10.1093\/hmg\/ddr165","article-title":"The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response","volume":"20","author":"Staudigl","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0130","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s10545-012-9485-y","article-title":"Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients","volume":"36","author":"Sterl","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.gene.2013.05.057_bb0150","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1111\/j.1399-0004.2006.00650.x","article-title":"Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro","volume":"70","author":"Stojiljkovic","year":"2006","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0195","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ymgme.2010.05.014","article-title":"Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8","volume":"101","author":"Stojiljkovic","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0185","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1159\/000472429","article-title":"Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene","volume":"1","author":"Svensson","year":"1993","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.057_bb0200","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.ymgme.2012.07.010","article-title":"Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population","volume":"107","author":"Tansek","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2013.05.057_bb0085","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/s10545-008-0940-8","article-title":"Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria","volume":"32","author":"Trefz","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.gene.2013.05.057_bb0060","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L","article-title":"In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function","volume":"11","author":"Waters","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.05.057_bb0190","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1089\/gte.2005.9.133","article-title":"Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening","volume":"9","author":"Zaffanello","year":"2005","journal-title":"Genet. Test."},{"key":"10.1016\/j.gene.2013.05.057_bb0020","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/humu.10192","article-title":"Phenylketonuria mutations in Europe","volume":"21","author":"Zschocke","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.05.057_bb0045","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/humu.20637","article-title":"Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency","volume":"29","author":"Zurfluh","year":"2008","journal-title":"Hum. Mutat."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913007075?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913007075?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T02:45:23Z","timestamp":1563158723000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913007075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9]]},"references-count":40,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["S0378111913007075"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.05.057","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenylalanine hydroxylase deficiency in the Slovak population: Genotype\u2013phenotype correlations and genotype-based predictions of BH4-responsiveness","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.05.057","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}