{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:50:07Z","timestamp":1790430607285,"version":"4.1.0"},"reference-count":23,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Cell Transplant"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:p>Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.<\/jats:p>","DOI":"10.3727\/096368912x653255","type":"journal-article","created":{"date-parts":[[2012,8,14]],"date-time":"2012-08-14T00:24:25Z","timestamp":1344903865000},"page":"2765-2770","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":64,"title":["Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria"],"prefix":"10.1177","volume":"21","author":[{"given":"X.","family":"St\u00e9phenne","sequence":"first","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroent\u00e9rologie et H\u00e9patologie P\u00e9diatrique, Banque D'h\u00e9patocytes, Bruxelles, Belgium"},{"name":"Universit\u00e9 Catholique de Louvain, Institut de Recherche Exp\u00e9rimentale et Clinique (IREC), Laboratoire D'h\u00e9patologie P\u00e9diatrique & Th\u00e9rapie Cellulaire, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. G.","family":"Debray","sequence":"additional","affiliation":[{"name":"CHU & Universit\u00e9 de Li\u00e8ge, Centre de G\u00e9n\u00e9tique Humaine, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Smets","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroent\u00e9rologie et H\u00e9patologie P\u00e9diatrique, Banque D'h\u00e9patocytes, Bruxelles, Belgium"},{"name":"Universit\u00e9 Catholique de Louvain, Institut de Recherche Exp\u00e9rimentale et Clinique (IREC), Laboratoire D'h\u00e9patologie P\u00e9diatrique & Th\u00e9rapie Cellulaire, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Jazouli","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroent\u00e9rologie et H\u00e9patologie P\u00e9diatrique, Banque D'h\u00e9patocytes, Bruxelles, Belgium"},{"name":"Universit\u00e9 Catholique de Louvain, Institut de Recherche Exp\u00e9rimentale et Clinique (IREC), Laboratoire D'h\u00e9patologie P\u00e9diatrique & Th\u00e9rapie Cellulaire, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Sana","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroent\u00e9rologie et H\u00e9patologie P\u00e9diatrique, Banque D'h\u00e9patocytes, Bruxelles, Belgium"},{"name":"Universit\u00e9 Catholique de Louvain, Institut de Recherche Exp\u00e9rimentale et Clinique (IREC), Laboratoire D'h\u00e9patologie P\u00e9diatrique & Th\u00e9rapie Cellulaire, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Tondreau","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroent\u00e9rologie et H\u00e9patologie P\u00e9diatrique, Banque D'h\u00e9patocytes, Bruxelles, Belgium"},{"name":"Universit\u00e9 Catholique de Louvain, Institut de Recherche Exp\u00e9rimentale et Clinique (IREC), Laboratoire D'h\u00e9patologie P\u00e9diatrique & Th\u00e9rapie Cellulaire, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Menten","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Cliniques Universitaires St Luc, Unit\u00e9 de Radiologie P\u00e9diatrique, Bruxelles, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Goffette","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Cliniques Universitaires St Luc, Unit\u00e9 de Radiologie P\u00e9diatrique, Bruxelles, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Boemer","sequence":"additional","affiliation":[{"name":"CHU & Universit\u00e9 de Li\u00e8ge, Genetic Biochemistry Laboratory, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Schoos","sequence":"additional","affiliation":[{"name":"CHU & Universit\u00e9 de Li\u00e8ge, Genetic Biochemistry Laboratory, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. W.","family":"Gersting","sequence":"additional","affiliation":[{"name":"Dr. von Hauner Children's Hospital, Division of Molecular Pediatrics, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Najimi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Institut de Recherche Exp\u00e9rimentale et Clinique (IREC), Laboratoire D'h\u00e9patologie P\u00e9diatrique & Th\u00e9rapie Cellulaire, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. C.","family":"Muntau","sequence":"additional","affiliation":[{"name":"Dr. von Hauner Children's Hospital, Division of Molecular Pediatrics, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Goyens","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Libre de Bruxelles, Unit\u00e9 de Nutrition et M\u00e9tabolisme & Laboratoire de P\u00e9diatrie, Bruxelles, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. M.","family":"Sokal","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroent\u00e9rologie et H\u00e9patologie P\u00e9diatrique, Banque D'h\u00e9patocytes, Bruxelles, Belgium"},{"name":"Universit\u00e9 Catholique de Louvain, Institut de Recherche Exp\u00e9rimentale et Clinique (IREC), Laboratoire D'h\u00e9patologie P\u00e9diatrique & Th\u00e9rapie Cellulaire, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2012,12,1]]},"reference":[{"key":"bibr1-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60961-0"},{"key":"bibr2-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.09.015"},{"key":"bibr3-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.02.017"},{"key":"bibr4-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2005.03.025"},{"key":"bibr5-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9099-1"},{"key":"bibr6-096368912X653255","doi-asserted-by":"publisher","DOI":"10.3727\/096368910X516655"},{"key":"bibr7-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0572-4"},{"key":"bibr8-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199603)53:3<176::AID-TERA5>3.0.CO;2-2"},{"key":"bibr9-096368912X653255","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.14.864"},{"key":"bibr10-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1007\/s11065-007-9021-2"},{"key":"bibr11-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021654"},{"key":"bibr12-096368912X653255","doi-asserted-by":"publisher","DOI":"10.3727\/000000007783465154"},{"key":"bibr13-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(81)90606-5"},{"key":"bibr14-096368912X653255","doi-asserted-by":"publisher","DOI":"10.3727\/096368911X566208"},{"key":"bibr15-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2009.127"},{"key":"bibr16-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0808421105"},{"key":"bibr17-096368912X653255","volume-title":"The metabolic and molecular bases of inherited disease, 8th ed.","author":"Scriver C. R.","year":"2001"},{"key":"bibr18-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2007.00788.x"},{"key":"bibr19-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.5.472"},{"key":"bibr20-096368912X653255","doi-asserted-by":"publisher","DOI":"10.3727\/000000007783464821"},{"key":"bibr21-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2006.01.008"},{"key":"bibr23-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.05.006"},{"key":"bibr24-096368912X653255","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.031"}],"container-title":["Cell Transplantation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.3727\/096368912X653255","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/full-xml\/10.3727\/096368912X653255","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.3727\/096368912X653255","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:37:19Z","timestamp":1777390639000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.sagepub.com\/doi\/10.3727\/096368912X653255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.3727\/096368912X653255"],"URL":"https:\/\/doi.org\/10.3727\/096368912x653255","relation":{},"ISSN":["0963-6897","1555-3892"],"issn-type":[{"value":"0963-6897","type":"print"},{"value":"1555-3892","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12]]}}}