نتایج جستجو برای: galactose uridyl transferase
تعداد نتایج: 39536 فیلتر نتایج به سال:
Three of the four inducible enzymes required for galactose utilization by Saccharomyces cerevisiae are specified by three genes (GAL7, GALlO, and GALI) comprising a genetically tight cluster near the centromere of chromosome II. The inducibility of all four enzyme activities is coordinately mediated by the action of a positive regulatory gene, GAL4, which is not genetically linked to the struct...
A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitryp...
Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features were observed in this infant except cataract on sli...
FUJIMURA, Y., KAWAMURA, M. and NARUSE, H. Simultaneous Quantitative Estimation of Galactose-1-Phosphate and Galactovve in Blood for the Diagnosis of Galactosemia. Tohoku J. exp. Med., 1982, 137 (3), 28°-295 A new microfluorometrical simultaneous assay method of galactose-l-phosphate and galactose in blood discs was devised by use of alkaline phosphatase and fl-galactose dehydrogenase. Our metho...
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