{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:43:04Z","timestamp":1788424984949,"version":"build-2803163510"},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2002,11,1]],"date-time":"2002-11-01T00:00:00Z","timestamp":1036108800000},"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":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent studies indicate that individual blood\u2013brain transport characteristics of phenylalanine may lead to different clinical outcomes in phenylketonuria (PKU) patients in spite of comparable dietary control. To check these preliminary data, we investigated four pairs of siblings with classical PKU (and identical genotype) using <jats:italic>in vivo<\/jats:italic> nuclear magnetic resonance spectroscopy in the course of an oral phenylalanine load (100\u2009mg\/kg body weight). Patients' brain phenylalanine concentrations were different in spite of similar blood levels. Interindividual variations of the apparent transport Michaelis constant, <jats:italic>K<\/jats:italic><jats:sub>t,app<\/jats:sub>, ranged from 0.10 to 0.84\u2009mmol\/L. The ratio of the maximal transport velocity, <jats:italic>T<\/jats:italic><jats:sub>max<\/jats:sub>, over the intracerebral consumption rate, <jats:italic>V<\/jats:italic><jats:sub>met<\/jats:sub>, varied between 2.61 and 14.0. Siblings with lower values for <jats:italic>K<\/jats:italic><jats:sub>t,app<\/jats:sub>, higher values for <jats:italic>T<\/jats:italic><jats:sub>max<\/jats:sub>\/<jats:italic>V<\/jats:italic><jats:sub>met<\/jats:sub>, and higher concurrent brain phenylalanine levels showed a lower IQ and a higher degree of cerebral white matter abnormalities. The results indicate that blood\u2013brain barrier transport characteristics and the resultant brain phenylalanine levels are causative factors for the individual clinical outcome in PKU.<\/jats:p>","DOI":"10.1023\/a:1021234730512","type":"journal-article","created":{"date-parts":[[2003,3,21]],"date-time":"2003-03-21T00:56:49Z","timestamp":1048208209000},"page":"431-436","source":"Crossref","is-referenced-by-count":38,"title":["Individual blood\u2013brain barrier phenylalanine transport in siblings with classical phenylketonuria"],"prefix":"10.1002","volume":"25","author":[{"given":"J.","family":"Weglage","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of M\u00fcnster  M\u00fcnster"},{"name":"Department of Pediatrics University of M\u00fcnster  Albert\u2010Schweitzer\u2010Str. 33 M\u00fcnster 48129 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Wiedermann","sequence":"additional","affiliation":[{"name":"Max\u2010Planck\u2010Institute for Neurological Research  Cologne"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Denecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of M\u00fcnster  M\u00fcnster"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Feldmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of M\u00fcnster  M\u00fcnster"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.\u2010G.","family":"Koch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of M\u00fcnster  M\u00fcnster"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Ullrich","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Hamburg  Hamburg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. E.","family":"M\u00f6ller","sequence":"additional","affiliation":[{"name":"Institute for Physical Chemistry University of M\u00fcnster  M\u00fcnster"},{"name":"Institute for Clinical Radiology University of M\u00fcnster  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02436753"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.106.5.1093"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-979753"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004647-199811000-00004"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004647-200103000-00011"},{"key":"e_1_2_1_7_1","first-page":"1667","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Scriver CH","year":"2001"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1226"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1021234730512","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1021234730512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T16:59:41Z","timestamp":1694797181000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1021234730512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,11]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2002,11]]}},"alternative-id":["10.1023\/A:1021234730512"],"URL":"https:\/\/doi.org\/10.1023\/a:1021234730512","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,11]]}}}