{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:04:51Z","timestamp":1790485491716,"version":"4.1.0"},"reference-count":12,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2005,12]]},"DOI":"10.1016\/j.ymgme.2005.09.011","type":"journal-article","created":{"date-parts":[[2005,11,8]],"date-time":"2005-11-08T12:14:46Z","timestamp":1131452086000},"page":"96-103","source":"Crossref","is-referenced-by-count":35,"special_numbering":"S","title":["Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper"],"prefix":"10.1016","volume":"86","author":[{"given":"Marcel R.","family":"Zurfl\u00fch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Giovannini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Fiori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betina","family":"Fiege","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Gokdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tolunay","family":"Baykal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucja","family":"Kierat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad H.","family":"G\u00e4rtner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beat","family":"Th\u00f6ny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"Blau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2005.09.011_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/0264-6021:3470001","article-title":"Tetrahydrobiopterin biosynthesis, regeneration, and functions","volume":"347","author":"Th\u00f6ny","year":"2000","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2005.09.011_bib2","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"1725","article-title":"Disorders of tetrahydrobiopterin and related biogenic amines","author":"Blau","year":"2001"},{"key":"10.1016\/j.ymgme.2005.09.011_bib3","series-title":"Physician\u2019s Guide to the Laboratory Diagnosis of Metabolic Disease","first-page":"89","article-title":"Disorders of phenylalanine and tetrahydrobiopterin","author":"Blau","year":"2002"},{"key":"10.1016\/j.ymgme.2005.09.011_bib4a","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/s00431-005-1638-7","article-title":"Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin responsive phenylketonuria","volume":"164","author":"Opladen","year":"2005","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2005.09.011_bib4b","series-title":"Techniques in Diagnostic Human Biochemical Genetics","first-page":"377","author":"Curtius","year":"1991"},{"key":"10.1016\/j.ymgme.2005.09.011_bib5","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1542\/peds.32.3.338","article-title":"A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants","volume":"32","author":"Guthrie","year":"1963","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2005.09.011_bib6","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1542\/peds.70.3.426","article-title":"Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots","volume":"70","author":"Arai","year":"1982","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2005.09.011_bib7","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1136\/adc.59.1.58","article-title":"Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants","volume":"59","author":"Leeming","year":"1984","journal-title":"Arch. Dis. Child"},{"key":"10.1016\/j.ymgme.2005.09.011_bib8","series-title":"Chemistry and Biology of Pteridines","first-page":"305","article-title":"Catabolism of tetrahydrobiopterin in man","author":"Niederwieser","year":"1986"},{"key":"10.1016\/j.ymgme.2005.09.011_bib9","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/0003-2697(80)90336-X","article-title":"Analysis of reduced forms of biopterin in biological tissues and fluids","volume":"102","author":"Fukushima","year":"1980","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2005.09.011_bib10","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.ymgme.2003.09.014","article-title":"Plasma tetrahydrobiopterin and its pharmacokinetics following oral administration","volume":"81","author":"Fiege","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2005.09.011_bib11","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/0009-8981(93)90139-U","article-title":"Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes","volume":"216","author":"Ponzone","year":"1993","journal-title":"Clin. Chim. Acta"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719205003057?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719205003057?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T09:29:00Z","timestamp":1683278940000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719205003057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12]]},"references-count":12,"alternative-id":["S1096719205003057"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2005.09.011","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2005,12]]}}}