Associated Papers
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
A case report of classic galactosemia with a GALT gene variant and a literature review.
Wang YC et al.
Bmc Pediatrics, 2024
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G et al.
International Journal of Molecular Sciences, 2023
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
Molecular characterization of novel and rare DNA variants in patients with galactosemia.
Maroulis V et al.
Frontiers in Genetics, 2023
Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.
Randall JA et al.
Orphanet Journal of Rare Diseases, 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
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
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 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Welsink-Karssies MM et al.
Journal of Inherited Metabolic Disease, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM et al.
Molecular Genetics and Metabolism, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM et al.
Brain Communications, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo ME et al.
Orphanet Journal of Rare Diseases, 2019
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
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.
Korner M et al.
Orphanet Journal of Rare Diseases, 2019
Screening for galactosemia: is there a place for it?
Kotb MA et al.
International Journal of General Medicine, 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
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Demirbas D et al.
Pediatric Clinics of North America, 2018
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Yuzyuk T et al.
Journal of Inherited Metabolic Disease, 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
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia.
van Erven B et al.
Scientific Reports, 2017
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
Clinical Genetics, 2017
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
Welling L et al.
Molecular Genetics and Metabolism, 2017
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.
Atik SU et al.
Turk Pediatri Arsivi, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 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
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.
Tran TT et al.
Jimd Reports, 2015
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Schadewaldt P et al.
Archives of Physiology and Biochemistry, 2014
Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.
Sartippour MR et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Galactosemia: when is it a newborn screening emergency?
Berry GT
Molecular Genetics and Metabolism, 2012
Innovative therapy for Classic Galactosemia - tale of two HTS.
Tang M 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
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia.
Woo HC et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2010