Abstract
Hereditary tyrosinemia type 1, a common genetic disorder in the province of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism, the accumulation of succinyiacetone leads to neurologic crises, acute and chronic liver failure, complex renal tubulopathy, rickets and a hemorrhagic syndrome. Liver transplantation has dramatically modified the spontaneous course of this lethal disease. The present paper describes the imaging features of tyrosinemia in 30 patients followed from 1980 to 1995 at Hôpital Sainte-Justine, Montreal, Canada.
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Dubois, J., Garel, L., Patriquin, H. et al. Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients. Pediatr Radiol 26, 845–851 (1996). https://doi.org/10.1007/BF03178035
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DOI: https://doi.org/10.1007/BF03178035