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...

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Bibliographic Details
Main Authors: Farzaneh Mirzajani, Reza Mirfakhraei, Neda Naghib-Zadeh, Farah Nabati, Sasan Saki, Elham Talachian, Masoud Houshmand
Format: Article
Language:fas
Published: University of Social Welfare and Rehabilitation Sciences 2005-04-01
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