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Galactose and galactose-1-phosphate spot test for galactosemia screening

โœ Scribed by Misuma Hiromasa; Wada Hiroshi; Kawakami Mikiko; Ninomiya Hukuko; Shohmori Toshikiyo


Book ID
115823684
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
359 KB
Volume
111
Category
Article
ISSN
0009-8981

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Classical galactosemia and mutations at
โœ Linda Tyfield; Juergen Reichardt; Judy Fridovich-Keil; David T. Croke; Louis J. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 763 KB

Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes