フマリルアセトアセターゼ
doi:10.1203/00006450-198307000-00005. PMID 6622096.
Kvittingen EA, Jellum E, Stokke O (1982). “Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia”. Clin. Chim. Acta 115 (3): 311–9. doi:10.1016/0009-8981(81)90244-8. PMID 7296877.
Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA (1995). “Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1”. Hum. Mutat. 6 (1): 66–73. doi:10.1002/humu.1380060113. PMID 7550234.
St-Louis M, Poudrier J, Phaneuf D, Leclerc B, Laframboise R, Tanguay RM (1995). “Two novel mutations involved in hereditary tyrosinemia type I”.
doi:10.1093/hmg/2.7.941. PMID 8364576.
Labelle Y, Puymirat J, Tanguay RM (1993). “Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1”. Biochim. Biophys. Acta 1180 (3): 250–6. doi:10.1016/0925-4439(93)90046-4. PMID 8422430.
Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R (1996). “Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship”. Hum. Genet. 97 (1): 51–9. doi:10.1007/bf00218833. PMID 8557261.