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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
Kalay I et al.
Annals of Human Genetics, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
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
The genetic basis of classical galactosaemia in Polish patients.
Jezela-Stanek A et al.
Orphanet Journal of Rare Diseases, 2021
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
Ohlsson A et al.
Journal of Inherited Metabolic Disease, 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
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.
Yuzyuk T et al.
The Journal of Applied Laboratory Medicine, 2018
Comprehensive genetic testing for female and male infertility using next-generation sequencing.
Patel B et al.
Journal of Assisted Reproduction and Genetics, 2018
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.
Welling L et al.
Jimd Reports, 2017
The molecular basis of galactosemia - Past, present and future.
Timson DJ
Gene, 2016
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Musleh M et al.
Eye (london, England), 2016
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
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.
Stockmann H et al.
Jimd Reports, 2016
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Viggiano E et al.
Gene, 2015
Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?
Coss KP et al.
Molecular Genetics and Metabolism, 2014
Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Leptin levels in children and adults with classic galactosaemia.
Knerr I et al.
Jimd Reports, 2013
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
Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
Ko DH et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Facchiano A et al.
Protein Engineering, Design & Selection : Peds, 2010
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Carney AE et al.
Human Molecular Genetics, 2009
Outcomes of siblings with classical galactosemia.
Hughes J et al.
The Journal of Pediatrics, 2009
Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone.
Gubbels CS et al.
Fertility and Sterility, 2009
Dominant versus recessive: molecular mechanisms in metabolic disease.
Zschocke J
Journal of Inherited Metabolic Disease, 2008
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
Feillet F et al.
Journal of Hepatology, 2008
Galactosemia and amenorrhea in the adolescent.
Berry GT
Annals of the New York Academy of Sciences, 2008
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
Sturiale L et al.
Glycobiology, 2005
Neonatal screening, clinical features and genetic testing for galactosemia.
Zaffanello M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
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
Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase.
Christacos NC et al.
Molecular Genetics and Metabolism, 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
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
Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.
Shin YS et al.
Journal of Inherited Metabolic Disease, 1998
Molecular and biochemical basis of galactosemia.
Wang BB et al.
Molecular Genetics and Metabolism, 1998
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
Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.
Elsevier JP et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
Shin YS et al.
European Journal of Pediatrics, 1996
Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
Podskarbi T et al.
Journal of Inherited Metabolic Disease, 1996