A tandem mass spectrometry was negative when he received nothing by mouth, but was positive for tyrosinaemia
after full feeding.
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia
Oliver was transferred to Birmingham, where medics diagnosed a rare hereditary disease, Tyrosinaemia
Pregnancy during nitisinone treatment for tyrosinaemia
type I: First human experience.
type I is a devastating autosomal recessive metabolic disorder, which, if untreated, causes liver failure, rickets, painful neurological crisis and hepatocellular carcinoma.
type I and NTBC [2-(2-nitro-4trifluoromethylbenzoyl)-1,3-cyclohexanedione].