Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
Monosaccharides improve symptoms of an animal model for type III galactosemia, through the activation of the insulin pathway.
Lucas-Rodríguez P et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2024
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A et al.
Platelets, 2023
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S et al.
Journal of Inherited Metabolic Disease, 2023
Molecular characterization of novel and rare DNA variants in patients with galactosemia.
Maroulis V et al.
Frontiers in Genetics, 2023
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B et al.
Orphanet Journal of Rare Diseases, 2022
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M et al.
Biomolecules, 2022
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Kumar SU et al.
Cell Biochemistry and Biophysics, 2021
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Febres-Aldana CA et al.
Molecular Syndromology, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Seo A et al.
Human Molecular Genetics, 2019
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Demirbas D et al.
Pediatric Clinics of North America, 2018
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Pasquali M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].
Yang RL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
Galactose Epimerase Deficiency: Expanding the Phenotype.
Dias Costa F et al.
Jimd Reports, 2017
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Genovese G et al.
Nature Neuroscience, 2016
The molecular basis of galactosemia - Past, present and future.
Timson DJ
Gene, 2016
The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.
Pey AL et al.
Archives of Biochemistry and Biophysics, 2014
Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.
Timson DJ et al.
Gene, 2013
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
McCorvie TJ et al.
Gene, 2013
A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.
Liu Y et al.
Jimd Reports, 2013
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
McCorvie TJ et al.
Biochimica Et Biophysica Acta, 2012
In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.
McCorvie TJ et al.
Biochimie, 2011
Generalized epimerase deficiency galactosemia.
Sarkar M et al.
Indian Journal of Pediatrics, 2010
Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
Bang YL et al.
The Febs Journal, 2009
Overexpression of the aldose reductase GRE3 suppresses lithium-induced galactose toxicity in Saccharomyces cerevisiae.
Masuda CA et al.
Fems Yeast Research, 2008
Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.
Chhay JS et al.
Journal of Inherited Metabolic Disease, 2008
The structural and molecular biology of type III galactosemia.
Timson DJ
Iubmb Life, 2006
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK et al.
American Journal of Human Genetics, 2006
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.
Timson DJ
The Febs Journal, 2005
Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.
Schulz JM et al.
The Journal of Biological Chemistry, 2005
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.
Wasilenko J et al.
Molecular Genetics and Metabolism, 2005
Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.
Schulz JM et al.
The Journal of Biological Chemistry, 2004
A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.
Henderson JM et al.
Clinical Genetics, 2001
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Thoden JB et al.
The Journal of Biological Chemistry, 2001
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.
Wohlers TM et al.
Journal of Inherited Metabolic Disease, 2000
Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase.
Thoden JB et al.
Biochemistry, 2000
Generalised uridine diphosphate galactose-4-epimerase deficiency.
Walter JH et al.
Archives of Disease in Childhood, 1999