Newborn screening for galactosemia: ultramicro assay for galactose-1-phosphate-uridyltransferase activity
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference19 articles.
1. Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation;Gathof;Hum Genet,1995
2. Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosemia;Shin;Eur J Pediatr,1996
3. A molecular approach to galatosemia;Elsas;Eur J Pediatr,1995
4. Genetic Basis of Galactosemia;Reichardt;Hum Mutation,1992
5. Microassay for screening newborns for galactosemia with use of a microplate reader;Yamaguchi;Clin Chem,1989
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