Tyrosinemia Type Ii
Mostrando 1-3 de 3 artigos, teses e dissertações.
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1. Efeito do ácido gama-hidroxibutírico e da tirosina sobre parâmetros de estresse oxidativo em córtex cerebral de ratos jovens
A deficiência da semi-aldeído succínico desidrogenase (SSADH) e a tirosinemia tipo II caracterizam-se pela presença de elevadas concentrações teciduais e plasmáticas de ácido γ-hidroxibutírico (GHB) e tirosina, respectivamente. Tanto os pacientes afetados pela deficiência da SSADH quanto aqueles com tirosinemia tipo II apresentam sinais e sintomas
Publicado em: 2008
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2. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels. The disease results from deficiency in hepatic tyrosine aminotransferase (TAT; L-tyrosine:2-oxoglutarate aminotransferase, EC 2.6.1.5), a 454-amino
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3. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
Type 1 hereditary tyrosinemia (HT1) is a metabolic disorder caused by a deficiency of fumarylacetoacetate hydrolase (FAH). Using a full-length FAH cDNA and specific antibodies, we investigated liver specimens from seven unrelated HT1 patients (six of French Canadian and one of Scandinavian origin). The expression of FAH in livers of these individuals was ana