{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T05:27:21Z","timestamp":1793251641039,"version":"4.5.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Biochemistry"],"published-print":{"date-parts":[[2010,1]]},"DOI":"10.1016\/j.clinbiochem.2009.09.018","type":"journal-article","created":{"date-parts":[[2009,9,27]],"date-time":"2009-09-27T04:09:37Z","timestamp":1254024577000},"page":"76-81","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X"],"prefix":"10.1016","volume":"43","author":[{"given":"Saloua","family":"Dahri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lourdes R.","family":"Desviat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e1tima","family":"Leal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Ugarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Layachi","family":"Chabraoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clinbiochem.2009.09.018_bib1","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/S0140-6736(07)61234-3","article-title":"Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study","volume":"370","author":"Levy","year":"2007","journal-title":"Lancet"},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib2","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.ymgme.2007.04.015","article-title":"Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria","volume":"91","author":"Gamez","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib3","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":"AJHG"},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib4","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.clinbiochem.2009.09.018_bib5","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/humu.10197","article-title":"How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression","volume":"21","author":"Waters","year":"2003","journal-title":"Human Mutat."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib6","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/sj.ejhg.5200270","article-title":"Haplotypes and mutations of the PAH locus in Egyptian families with PKU","volume":"7","author":"Effat","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib7","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/humu.9116","article-title":"Mutational spectrum in German patients with phenylalanine hydroxylase deficiency","volume":"21","author":"Aulehla-Scholz","year":"2003","journal-title":"Human Mutat."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib8","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0027-5107(03)00015-0","article-title":"Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan","volume":"526","author":"Vallian","year":"2003","journal-title":"Mutat. Res."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib9","first-page":"123","article-title":"Screening for inborn errors of amino acid metabolism","volume":"21","author":"Wu","year":"1991","journal-title":"Ann. Clin. Lab. Sci."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib10","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/clinchem\/15.1.15","article-title":"A shortened method for the fluorometric determination of phenylalanine","volume":"15","author":"Ambrose","year":"1969","journal-title":"Clin. Chem."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib11","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1093\/nar\/22.5.880","article-title":"\u201cBroad-range\u201d DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene","volume":"22","author":"Guldberg","year":"1994","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib12","first-page":"95","article-title":"Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers","volume":"60","author":"P\u00e9rez","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib13","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.cca.2006.05.003","article-title":"Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis","volume":"373","author":"Desviat","year":"2006","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib14","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.clinbiochem.2009.09.018_bib15","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1007\/s10545-008-1052-1","article-title":"Quality of diagnostic mutation analyses for phenylketonuria","volume":"31","author":"Zschocke","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib16","doi-asserted-by":"crossref","first-page":"533","DOI":"10.3858\/emm.2008.40.5.533","article-title":"Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria","volume":"40","author":"Lee","year":"2008","journal-title":"Exp. Mol. Med."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib17","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/humu.9215","article-title":"Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation","volume":"23","author":"Chien","year":"2004","journal-title":"Human Mutat."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib18","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1093\/hmg\/2.10.1703","article-title":"Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily : implications for diagnosis of hyperphenylalaninemia in Southern Europe","volume":"2","author":"Guldberg","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib19","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1159\/000484795","article-title":"A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement","volume":"5","author":"Guldberg","year":"1997","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib20","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":"Human Mutat."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib21","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/sj.ejhg.5200312","article-title":"Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions","volume":"7","author":"Desviat","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib22","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1006\/mgme.2000.2971","article-title":"The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients","volume":"69","author":"Rivera","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.clinbiochem.2009.09.018_bib23","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s10038-008-0264-4","article-title":"Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene","volume":"53","author":"Bercovich","year":"2008","journal-title":"J. Hum. Genet."}],"container-title":["Clinical Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912009004123?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912009004123?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:32:09Z","timestamp":1757863929000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009912009004123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":23,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["S0009912009004123"],"URL":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2009.09.018","relation":{},"ISSN":["0009-9120"],"issn-type":[{"value":"0009-9120","type":"print"}],"subject":[],"published":{"date-parts":[[2010,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X","name":"articletitle","label":"Article Title"},{"value":"Clinical Biochemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2009.09.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}