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090: Duarte galactosemia: A partial galactose uridyl transferase deficiency with low prevalence of cataracts

โœ Scribed by Naureen A. Mirza-George; Can Ficicioglu; Gil Binenbaum; Brian J. Forbes


Book ID
116590397
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
64 KB
Volume
13
Category
Article
ISSN
1528-3933

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Isoelectrofocusing of erythrocyte galact
โœ F. Schapira; C. Gregori; J. Banroques; M. Vidailhet; S. Despoisses; C. Vigneron ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 439 KB

A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by isoelectro-focusing on thin-layer acrylamide. Normal and variant transferases were resolve