Type I hereditary tyrosinaemia: presentation of 11 cases.
Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia.
Coşkun
T
T
Department of Pediatric Metabolism, Hacettepe University, Ankara, Turkey.
Ozalp
I
I
Koçak
N
N
Yüce
A
A
Caglar
M
M
Berger
R
R
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
D000596:Amino Acids; D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase