Associated Papers
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.
Kawabata K et al.
Molecular Genetics and Metabolism Reports, 2022
35800472 (PubMed )
Supplement: mmc4.docx
Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.
Dweikat I et al.
Metabolism Open, 2021
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G et al.
Advances in Experimental Medicine and Biology, 2017
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
Dou LM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
Arranz JA et al.
Human Mutation, 2002
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
Elpeleg ON et al.
Human Mutation, 2002
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