نتایج جستجو برای: galactose uridyl transferase

تعداد نتایج: 39536  

Journal: :The Journal of biological chemistry 1978
J E Hopper L B Rowe

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...

Journal: :Journal of medical genetics 1976
L R Weitkamp J W Sayre R H Schwartz R Doherty S A Khera

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...

2011
Akanksha Rathi

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...

2006
YUSHIN FUJIMURA MASAHIKO KAWAMURA HIROSHI NARUSE Masahiko Kawamura

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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