Biochemical Diagnosis of Common Gene Mutations in Galactosemia

• Główni autorzy: Farzaneh Mirzajani (Autor), Reza Mirfakhraei (Autor), Neda Naghib-Zadeh (Autor), Farah Nabati (Autor), Sasan Saki (Autor), Elham Talachian (Autor), Masoud Houshmand (Autor)
• Format: Książka
• Wydane: University of Social Welfare and Rehabilitation Sciences, 2005-04-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...