The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.


HT1 is a severe autosomal recessive disorder due to the deficiency of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine. Before the era of treatment with 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), even with newborn screening and optimal diet therapy, HT1 patients often developed liver failure. Death was… (More)
DOI: 10.1007/978-3-319-55780-9_6

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