Associated Papers
Clinical and genetic features of Classic Galactosemia in the south of Brazil.
Simão Medeiros L et al.
Molecular Genetics and Metabolism, 2025
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
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Treacy EP et al.
Jimd Reports, 2021
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM et al.
Brain Communications, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Identification of novel mutations in classical galactosemia.
Bosch AM et al.
Human Mutation, 2005
Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations.
Shin YS et al.
Bratislavske Lekarske Listy, 2004
Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.
Shin YS et al.
Journal of Inherited Metabolic Disease, 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
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