Associated Papers
Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.
Pereira D et al.
Jimd Reports, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.
Canson DM et al.
Jimd Reports, 2019
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.
Colhoun HO et al.
Orphanet Journal of Rare Diseases, 2018
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.
Maratha A et al.
European Journal of Human Genetics : Ejhg, 2016
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
Coelho AI et al.
Molecular Genetics & Genomic Medicine, 2014
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
McCorvie TJ et al.
Biochimica Et Biophysica Acta, 2013
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.
Coss KP et al.
Journal of Inherited Metabolic Disease, 2013
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Facchiano A et al.
Protein Engineering, Design & Selection : Peds, 2010
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
Murphy M et al.
European Journal of Human Genetics : Ejhg, 1999
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