Article
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
Human mutation - 1 Jan 2002
Elpeleg Orly N, Shaag Avraham, Holme Elizabeth, Zughayar Ghaleb, Ronen Suzi, Fisher Drora, Hurvitz Haggit
Abstract excerpt
Thirteen Israeli patients with type I tyrosinemia were studied. To the best of our knowledge, this group represents all of the patients that were diagnosed in Israel during the years 1987-1997. Their age of onset was variable but all the patients suffered from liver disease at presentation. Six died at 3 to 36 months of age, whereas the remaining 7, in whom NTBC was started at 5 to 30 months, are alive and well...
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