MOBILE VIEW  | 
Document View > Galactose-1-phosphate uridyltransferase measurement

Galactose-1-phosphate uridyltransferase measurement

Galactose-1-phosphate uridyltransferase measurement

Galactose-1-phosphate uridyltransferase measurement

Dobrowolski SF, Banas RA, Suzow JG, et al: Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. J Mol Diagn 2003; 5(1):42-47.

Schweitzer-Krantz S: Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur J Pediatr 2003; 162(Suppl 1):S50-S53.

Irons M: Screening for metabolic disorders. How are we doing. Pediatr Clin North Am 1993; 40(5):1073-1085.

Beutler E: Galactosemia: screening and diagnosis. Clin Biochem 1991; 24(4):293-300.