نتایج جستجو برای: type 1 tyrosinemia
تعداد نتایج: 3647237 فیلتر نتایج به سال:
Triketone herbicides are inhibitors of 4-hydroxyphenylpyruvate dioxygenase (HPPD), a key enzyme of the tyrosine transformation pathway, common for plants and animals. One of these herbicides, 2-[2-nitro-4-(trifluoromethyl)benzoyl]-1,3-cyclohexanedione (NTBC), is so selective and efficient that it can be applied as a medicine in a hereditary metabolic disease - tyrosinemia type I. In this paper ...
Glutathione transferase zeta (GSTZ1-1) catalyzes the isomerization of maleylacetoacetate (MAA) to fumarylacetoacetate, the penultimate step in the tyrosine degradation pathway. GSTZ1-1 is inactivated by dichloroacetic acid (DCA), which is used for the clinical management of congenital lactic acidosis and is a drinking-water contaminant. Metabolic changes associated with chemically induced GSTZ1...
Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group of 29 HTI patients, most of them from the Mediterranean area. We identified seven novel mutations-IVS8-1(G>A, IVS10-2(A>T), 938delC, E6/I6del26, W78X, Q328X, and G343W-and two previously des...
t cells have been identified as key players in the pathogenesis of type 1 diabetes. however, the exact role of t-cell subpopulations in this pathway is presently unknown. the purpose of this study was to assess the expression pattern of two lineage-specifying transcription factors gata - 3 and t - bet , which are important in t helper type 1 (th1) and th2 cell development , respectively. gene e...
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