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
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
Tang M et al.
Human Mutation, 2012
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
Barbouth DS et al.
Pediatric Research, 2007
Classic galactosemia in the differential diagnosis of neonatal low gammaglutamyltransferase cholestasis.
Staut T et al.
Acta Gastro-enterologica Belgica, 0
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