Associated Papers
Clinical and genetic features of Classic Galactosemia in the south of Brazil.
Simão Medeiros L et al.
Molecular Genetics and Metabolism, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
Nguyen TT et al.
Molecular Genetics & Genomic Medicine, 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
Galactosemia: Towards Pharmacological Chaperones.
Banford S et al.
Journal of Personalized Medicine, 2021
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.
Crespo C et al.
Molecular Genetics and Metabolism Reports, 2020
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Demirbas D et al.
Molecular Genetics and Metabolism, 2019
Screening for galactosemia: is there a place for it?
Kotb MA et al.
International Journal of General Medicine, 2019
Comprehensive genetic testing for female and male infertility using next-generation sequencing.
Patel B et al.
Journal of Assisted Reproduction and Genetics, 2018
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
Clinical Genetics, 2017
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Garcia DF et al.
Bmc Medical Genetics, 2016
Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
Choi R et al.
Bmc Medical Genetics, 2014
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
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
Singh R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Boutron A et al.
Molecular Genetics and Metabolism, 2012
Structural and molecular biology of type I galactosemia: disease-associated mutations.
McCorvie TJ et al.
Iubmb Life, 2011
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Facchiano A et al.
Protein Engineering, Design & Selection : Peds, 2010
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
Velázquez-Aragón J et al.
Journal of Inherited Metabolic Disease, 2008
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Calderon FR et al.
Human Mutation, 2007
Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase.
Christacos NC et al.
Molecular Genetics and Metabolism, 2002
Molecular analysis in newborns from Texas affected with galactosemia.
Yang YP et al.
Human Mutation, 2002
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
Riehman K et al.
The Journal of Biological Chemistry, 2001
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Berry GT et al.
Pediatric Research, 2000
Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase.
Crews C et al.
The Journal of Biological Chemistry, 2000
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
Structural analysis of the H166G site-directed mutant of galactose-1-phosphate uridylyltransferase complexed with either UDP-glucose or UDP-galactose: detailed description of the nucleotide sugar binding site.
Thoden JB et al.
Biochemistry, 1997
The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
Elsevier JP et al.
The Journal of Biological Chemistry, 1996
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
Elsas LJ et al.
American Journal of Human Genetics, 1995
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.
Fridovich-Keil JL 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
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
Reichardt JK et al.
Biochemistry, 1992
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