{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T22:33:59Z","timestamp":1793399639348,"version":"4.5.0"},"reference-count":17,"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.2005.06.026","type":"journal-article","created":{"date-parts":[[2005,10,21]],"date-time":"2005-10-21T11:13:45Z","timestamp":1129893225000},"page":"75-80","source":"Crossref","is-referenced-by-count":47,"special_numbering":"S","title":["Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin"],"prefix":"10.1016","volume":"86","author":[{"given":"Friedrich K.","family":"Trefz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Scheible","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Frauendienst-Egger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert","family":"Korall","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.2005.06.026_bib1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ymgme.2004.03.006","article-title":"The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency","volume":"82","author":"Blau","year":"2004","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2005.06.026_bib2","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.ymgme.2005.06.026_bib3","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1023\/A:1010596317296","article-title":"Tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in Dutch neonates","volume":"24","author":"Spaapen","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2005.06.026_bib4","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1006\/mgme.2001.3168","article-title":"Tetrahydrobiopterin responsiveness in phenylketonuria divers between patients with the same genotype","volume":"73","author":"Lindner","year":"2001","journal-title":"Mol. Genet. Metab."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2005.06.026_bib5","first-page":"29","article-title":"A patient with phenylketonuria successfully treated with tetrahydrobiopterin","volume":"24","author":"Nuoffer","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2005.06.026_bib6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1023\/A:1015194002487","article-title":"Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings","volume":"25","author":"L\u00e4ssker","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"issue":"7","key":"10.1016\/j.ymgme.2005.06.026_bib7","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1007\/s00431-002-0966-0","article-title":"Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations","volume":"161","author":"Steinfeld","year":"2002","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2005.06.026_bib8","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1023\/A:1016514727870","article-title":"Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients","volume":"25","author":"Weglage","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2005.06.026_bib9","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1056\/NEJMoa021654","article-title":"Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria","volume":"347","author":"Muntau","year":"2002","journal-title":"N. Engl. J. Med."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2005.06.026_bib10","first-page":"21","article-title":"Partial and total tetrahydrobiopterin-responsiveness in classical and mild phenylketonuria (PKU)","volume":"25","author":"Hennermann","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2005.06.026_bib11","first-page":"23","article-title":"Tetrahydrobiopterin-responsive phenylalanine hydroxylase mutations","volume":"25","author":"Matalon","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.ymgme.2005.06.026_bib12","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/humu.9117","article-title":"Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency","volume":"21","author":"Lindner","year":"2003","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.ymgme.2005.06.026_bib13","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S1096-7192(02)00229-9","article-title":"Tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency, state of the art","volume":"78","author":"Spaapen","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2005.06.026_bib14","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/PL00008436","article-title":"Successful treatment of phenylketonuria with tetrahydrobiopterin","volume":"160","author":"Trefz","year":"2001","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2005.06.026_bib15","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1006\/mgme.2001.3294","article-title":"Tetrahydrobiopterin-responsive phenylalanine hydroxylase deWciency: possible regulation of gene expression in a patient with the homozygous L48S mutation","volume":"75","author":"Blau","year":"2002","journal-title":"Mol. Genet. Metab."},{"issue":"6 Pt 2","key":"10.1016\/j.ymgme.2005.06.026_bib16","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1542\/peds.112.S4.1566","article-title":"Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria","volume":"112","author":"Trefz","year":"2003","journal-title":"Pediatrics"},{"issue":"3","key":"10.1016\/j.ymgme.2005.06.026_bib17","first-page":"407","article-title":"Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis","volume":"2","author":"Topel","year":"2002","journal-title":"In Silico Biol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719205002404?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719205002404?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T05:23:04Z","timestamp":1683264184000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719205002404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12]]},"references-count":17,"alternative-id":["S1096719205002404"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2005.06.026","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2005,12]]}}}