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A Km mutant of arylsulfatase A |
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| Authors: | A M Harben N Krawiecki R Marcus F A Hommes |
| Institution: | Biochemistry Laboratory, Division of Medical Genetics, Childrens Hospital of Los Angeles, P.O. Box 54700, Los Angeles, CA 90054 USA |
| Abstract: | Semi-micro techniques are presented for the genotyping of galactokinase and galactose-1-phosphate uridyltransferase. Radioactive assays are used to quantitate the levels of enzyme activity, while agarose gel electrophoresis is used to type the variants of galactose-1-phosphate uridyltransferase. All three methods can be performed on 1 ml whole blood, making the procedures ideal for use in confirmation of galactosemia or galactokinase deficiency in newborn screening programs. |
| Keywords: | Gal galactose ATP adenosine triphosphate Gal-1-P galactose-1-phosphate UDPGIc uridine-5'-diphosphoglucose NADP nicotinamide adenine dinucleotide phosphate G6PD glucose-6-phosphate dehydrogenase PGM phosphoglucomutase |
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