Associated Papers
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
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Coelho AI et al.
Journal of Inherited Metabolic Disease, 2014
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
McCorvie TJ et al.
Biochimica Et Biophysica Acta, 2013
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Gort L et al.
Journal of Inherited Metabolic Disease, 2006
Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations.
Shin YS et al.
Bratislavske Lekarske Listy, 2004
Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).
Ng WG et al.
Journal of Inherited Metabolic Disease, 2003
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
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
Molecular and biochemical basis of galactosemia.
Wang BB et al.
Molecular Genetics and Metabolism, 1998
Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
Podskarbi T et al.
Journal of Inherited Metabolic Disease, 1996
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 human galactose-1-phosphate uridyltransferase gene.
Leslie ND et al.
Genomics, 1992
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0