Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts.
Brophy ML et al.
Journal of Inherited Metabolic Disease, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.
Brophy ML et al.
Journal of Biological Methods, 2021
Comprehensive genetic testing for female and male infertility using next-generation sequencing.
Patel B et al.
Journal of Assisted Reproduction and Genetics, 2018
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
The adult galactosemic phenotype.
Waisbren SE et al.
Journal of Inherited Metabolic Disease, 2012
Extended [13C]galactose oxidation studies in patients with galactosemia.
Berry GT et al.
Molecular Genetics and Metabolism, 2004
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.
Berry GT et al.
Molecular Genetics and Metabolism, 2004
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
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