Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Yuzyuk T et al.
Journal of Inherited Metabolic Disease, 2018
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
Milánkovics I et al.
Wiener Klinische Wochenschrift, 2010
Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.
Jama M et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Molecular analysis in newborns from Texas affected with galactosemia.
Yang YP et al.
Human Mutation, 2002
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
Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.
Lai K et al.
Human Mutation, 1998
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
Greber-Platzer S et al.
Human Mutation, 1997
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