title: Type I hereditary tyrosinaemia: presentation of 11 cases.
abstract: Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia.
authors.affiliation: Department of Pediatric Metabolism, Hacettepe University, Ankara, Turkey.
authors.forename: T
authors.initials: T
authors.lastname: Coşkun
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
authors.forename: N
authors.initials: N
authors.lastname: Koçak
authors.forename: A
authors.initials: A
authors.lastname: Yüce
authors.forename: M
authors.initials: M
authors.lastname: Caglar
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D000596:Amino Acids / Q000652:urine; D006528:Carcinoma, Hepatocellular / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006867:Hydrolases / Q000032:analysis / Q000172:deficiency; D007223:Infant; D007674:Kidney Diseases / Q000209:etiology; D008103:Liver Cirrhosis / Q000209:etiology; D008113:Liver Neoplasms / Q000209:etiology; D008297:Male; D012279:Rickets / Q000209:etiology; D014443:Tyrosine / Q000097:blood* / Q000652:urine
chemical_list: D000596:Amino Acids; D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase