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ewborn screening has substantially changed the geneticmetabolic world and greatly expanded the concept of preventive medicine… Expand Hepatocellular carcinoma (HCC) is a common form of cancer that arises from hepatocytes and whose risk may be affected by several… Expand SummaryWe describe a retrospective study of long-term outcome of 46 patients treated and regularly followed in France with 2-(2… Expand BACKGROUND
Tyrosinemia type I is associated with an increased risk of liver cancer development. The formation of the pathogenic… Expand Liver cancer is an uncommon indication for liver transplantation in children. Between 1986 and 1995, five children with… Expand Relatively high frequencies of some rare inherited disorders can be found in the Saguenay Region (Quebec). To understand this… Expand &NA; Hereditary tyrosinemia type I (HTI) (MIM 276700) is an autosomal recessive disorder caused by deficiency of… Expand The histology of 72 livers from 72 children who underwent liver transplantation was reviewed. Nine children (12.5%) had… Expand A technique designed to measure quantitatively succinylacetone (4,6-dioxoheptanoic acid) is presented. It essentially involves… Expand A patient is described with type I tyrosinemia characterized by urinary excretion of succinylacetone together with increased… Expand