Associated Papers
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
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M et al.
Biomolecules, 2022
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
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Papachristoforou R et al.
Annals of Human Genetics, 2019
Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.
Viggiano E et al.
Clinical Genetics, 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
Sweet and sour: an update on classic galactosemia.
Coelho AI et al.
Journal of Inherited Metabolic Disease, 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
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.
Lindor NM et al.
Mayo Clinic Proceedings, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
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
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
Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.
Pyhtila BM et al.
Jimd Reports, 2015
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
Coelho AI et al.
Molecular Genetics & Genomic Medicine, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
GALT protein database: querying structural and functional features of GALT enzyme.
d'Acierno A et al.
Human Mutation, 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
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.
Flanagan JM et al.
Heredity, 2010
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Carney AE et al.
Human Molecular Genetics, 2009
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
Velázquez-Aragón J et al.
Journal of Inherited Metabolic Disease, 2008
Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.
Jama M et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Identification of novel mutations in classical galactosemia.
Bosch AM et al.
Human Mutation, 2005
Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population.
Tighe O et al.
Molecular Genetics and Metabolism, 2004
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
Suzuki M et al.
Human Genetics, 2001