The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.
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DOI: 10.1007/978-3-319-55780-9_6
Abstract: 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… read more here.
Keywords: liver tyrosinemia; tyrosinemia type; management; clinical management ... See more keywords