{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T21:17:25Z","timestamp":1787001445785,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2000,12,1]],"date-time":"2000-12-01T00:00:00Z","timestamp":975628800000},"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":[[2000,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Tyrosinaemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma, in childhood or early adolescence. We studied a 37\u2010year\u2010old woman with tyrosinaemia I whose severe liver disease in infancy and rickets during childhood resolved with dietary therapy. From 14 years of age she resumed an unrestricted diet with the continued presence of the biochemical features of tyrosinaemia, yet maintained normal liver function. In adult years she accumulated only small amounts of succinylacetone. Despite this evolution to a mild biochemical and clinical phenotype, she eventually developed hepatocellular carcinoma. Her fumarylacetoacetate hydrolase genotype consists of a splice mutation, IVS6\u22121g&gt;t, and a novel missense mutation, Q279R. Studies of resected liver demonstrated the absence of hydrolytic activity and of immunological expression of fumarylacetoacetate hydrolase in liver tumour. In nontumoral areas, however, 53% of normal hydrolytic activity and immunologically present fumarylacetoacetate hydrolase was found. This case demonstrates the high risk of liver cancer in tyrosinaemia I even in a seemingly favourable biological environment.<\/jats:p>","DOI":"10.1023\/a:1026756501669","type":"journal-article","created":{"date-parts":[[2003,11,6]],"date-time":"2003-11-06T13:09:07Z","timestamp":1068124147000},"page":"791-804","source":"Crossref","is-referenced-by-count":32,"title":["Hepatocellular carcinoma despite long\u2010term survival in chronic tyrosinaemia I"],"prefix":"10.1002","volume":"23","author":[{"given":"S. Z.","family":"Kim","sequence":"first","affiliation":[{"name":"Division of Genetics, Children's Hospital and Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. G.","family":"Kupke","sequence":"additional","affiliation":[{"name":"Division of Genetics, Children's Hospital and Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Ierardi\u2010Curto","sequence":"additional","affiliation":[{"name":"Division of Genetics, Children's Hospital and Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Holme","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Sahlgrenska University Hospital  Gothenberg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Greter","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Sahlgrenska University Hospital  Gothenberg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. M.","family":"Tanguay","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Developmental Genetics, Department of Medicine, Pav. Marchand Laval University and CHUQ, Pav CHUL  Ste\u2010Foy Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Poudrier","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Developmental Genetics, Department of Medicine, Pav. Marchand Laval University and CHUQ, Pav CHUL  Ste\u2010Foy Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"D'Astous","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Developmental Genetics, Department of Medicine, Pav. Marchand Laval University and CHUQ, Pav CHUL  Ste\u2010Foy Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Lettre","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Developmental Genetics, Department of Medicine, Pav. Marchand Laval University and CHUQ, Pav CHUL  Ste\u2010Foy Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. H.","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ajou University School of Medicine  Suwon Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. 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