Rare diseases Xagena

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Search results for "Hereditary tyrosinaemia"

Nitisinone ( Orfadin ) has transformed the management of hereditary tyrosinaemia type 1 ( HT1 ). However, the risk of developing hepatocellular carcinoma is related to the age at which treatment is co ...

Alkaptonuria ( AKU ) is a rare inherited metabolic disorder with severe premature spondyloarthropathy as a major manifestation. Although joint disease is a major feature, virtually all connective ti ...