{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T07:24:04Z","timestamp":1772954644800,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1982,3,1]],"date-time":"1982-03-01T00:00:00Z","timestamp":383788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1982,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fifteen children, five with phenylketonuria (PKU), five with hyperphenylalaninaemia, and five phenotypically normal but at risk of being carriers for PKU, were given [ring<jats:sup>2<\/jats:sup>H<jats:sub>5<\/jats:sub>]phenylalanine orally in amounts ranging from 75 mg\/kg to 10 mg\/kg. Plama was assayed for [<jats:sup>2<\/jats:sup>H<jats:sub>5<\/jats:sub>]phenylalanine and [<jats:sup>2<\/jats:sup>H<jats:sub>4<\/jats:sub>]tyrosine at hourly intervals, the amino acids being measured as the<jats:italic>N<\/jats:italic>\u2010acetyl, n\u2010propyl esters by gas chromatography\u2010mass spectroscopy. The results obtained were calculated as the log of the ratio [<jats:sup>2<\/jats:sup>H<jats:sub>5<\/jats:sub>]phenylalanine: [<jats:sup>2<\/jats:sup>H<jats:sub>4<\/jats:sub>]tyrosine in the plasma. The five patients with PKU had ratios of infinity because no [<jats:sup>2<\/jats:sup>H<jats:sub>4<\/jats:sub>]tyrosine was measured in their plasma during the experimental period. The patients with hyperphenylalaninaemia had log ratios over 2.00 throughout the assay period. Among the five normal children three are considered to be carriers for PKU as the logarithms of the [<jats:sup>2<\/jats:sup>H<jats:sub>5<\/jats:sub>]phenylalanine: [<jats:sup>2<\/jats:sup>H<jats:sub>4<\/jats:sub>]tyrosine ratios were 1.77, 1.73, and 1.33 and remained over 1.00 during the assay period. The other children had log ratios of 1.16 and 1.00 at the first hour which dropped below 1.00 subsequently, suggesting normal activity of phenylalanine hydroxylase.<\/jats:p>","DOI":"10.1007\/bf01799749","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:39:55Z","timestamp":1119371995000},"page":"17-19","source":"Crossref","is-referenced-by-count":12,"title":["The use of deuterated phenylalanine for the<i>in vivo<\/i> assay of phenylalanine hydroxylase activity in children"],"prefix":"10.1002","volume":"5","author":[{"given":"R.","family":"Matalon","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Medicine University of Illinois  Chicago IL 60612"},{"name":"Washington University  St Louis MI 63110 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. E.","family":"Matthews","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Medicine University of Illinois  Chicago IL 60612"},{"name":"Washington University  St Louis MI 63110 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Michals","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Medicine University of Illinois  Chicago IL 60612"},{"name":"Washington University  St Louis MI 63110 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Bier","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Medicine University of Illinois  Chicago IL 60612"},{"name":"Washington University  St Louis MI 63110 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1982,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(72)90442-1"},{"key":"e_1_2_1_3_1","first-page":"461","article-title":"In vivo studies of phenylalanine\u20104\u2010hydroxylase system in hyperphenylalaninemics and phenylketonurics","volume":"32","author":"Curtius H.\u2010Ch.","year":"1978","journal-title":"Helv. Paediatr. Acta"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01801843"},{"key":"e_1_2_1_5_1","first-page":"514","article-title":"Phenylpyruvic oligophrenia, deficiency of phenylalanine oxidising system","volume":"82","author":"Jervis G. A.","year":"1953","journal-title":"Proc. Soc. Exp. Biol. Med."},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac50037a028"},{"key":"e_1_2_1_7_1","first-page":"240","volume-title":"The Metabolic Basis of Inherited Disease","author":"Tourian A. Y.","year":"1978"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90264-X"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799749","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799749","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T08:48:33Z","timestamp":1694854113000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799749"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,3]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1982,3]]}},"alternative-id":["10.1007\/BF01799749"],"URL":"https:\/\/doi.org\/10.1007\/bf01799749","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,3]]}}}