THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES
نویسندگان
چکیده
منابع مشابه
The Assay of Galactokinase and Galactose-1-phosphate Uridyl Transferase Activity in Human Erythrocytes
A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented. The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test un...
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Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative...
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ژورنال
عنوان ژورنال: The Journal of Experimental Medicine
سال: 1963
ISSN: 1540-9538,0022-1007
DOI: 10.1084/jem.118.4.658