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 & Me...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | fas |
Published: |
University of Social Welfare and Rehabilitation Sciences
2005-04-01
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Series: | Journal of Rehabilitation |
Subjects: | |
Online Access: | http://rehabilitationj.uswr.ac.ir/browse.php?a_code=A-10-1-94&slc_lang=en&sid=1 |