Biochemical Diagnosis of Common Gene Mutations in Galactosemia
Objective: Galactosemia is an inborn error of galactose metabolism that is inherited in an autosomal recessive trait. Classical galactosemia is caused by deficient activity of the galactose-1-phosphate uridyltransferase (GALT) enzyme that can result in galactosemia complications. Materials & Met...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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University of Social Welfare and Rehabilitation Sciences,
2005-04-01T00:00:00Z.
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