Archives of Disease in Childhood · 1991 · 25 citations · 2 references
MedicinePediatricsChild DevelopmentDevelopmental PediatricsNeonatologyCongenital AnomaliesCongenital DisordersGenetic DisordersNeonatal ScreeningNeonatal SequelaeNeonatal Syndromic DiagnosisSyndromic Congenital Disorders
Tyrosinaemia type II was diagnosed in a boy with failure to thrive and in his sister on neonatal screening. On diet the outcome, at 12 and 10 years respectively, has been excellent in respect of oculocutaneous sequelae, growth, and psychomotor development, contrasting with the generally unfavourable outcome in most reported cases.
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The Metabolic Basis of Inherited Disease
John T. Garland · JAMA · 1990 · 658 citations
Isolation and characterization of the human tyrosine aminotransferase gene
Ruth Rettenmeier, E. Natt, Hanswalter Zentgraf et al. · Nucleic Acids Research · 1990 · 56 citations · Full text