Biochemical Diagnosis of Common Gene Mutations in Galactosemia

• Main Authors: Farzaneh Mirzajani (Author), Reza Mirfakhraei (Author), Neda Naghib-Zadeh (Author), Farah Nabati (Author), Sasan Saki (Author), Elham Talachian (Author), Masoud Houshmand (Author)
• Format: Book
• Published: University of Social Welfare and Rehabilitation Sciences, 2005-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...