Article
Outcome of children with hereditary tyrosinaemia following newborn screening.
Archives of disease in childhood - 1 Aug 2015
McKiernan P J, Preece Mary Anne, Chakrapani Anupam
Abstract excerpt
BACKGROUND: Nitisinone 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 commenced. Little data on the outcome of children treated pre-emptively exist. AIM: To describe the outcome of children with HT1 treated with nitisinone following selective newborn screening (NBS) and to compare their...
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