Associated Papers
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.
Ryan EL et al.
Journal of Inherited Metabolic Disease, 2013
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Berry GT et al.
Pediatric Research, 2000
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
Molecular and biochemical basis of galactosemia.
Wang BB et al.
Molecular Genetics and Metabolism, 1998
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
Elsas LJ et al.
American Journal of Human Genetics, 1995
A molecular approach to galactosemia.
Elsas LJ et al.
European Journal of Pediatrics, 1995
A common mutation associated with the Duarte galactosemia allele.
Elsas LJ et al.
American Journal of Human Genetics, 1994
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Outcomes analysis of verbal dyspraxia in classic galactosemia.
Robertson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Select a paper to view details