Associated Papers
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
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
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Molecular characterization of novel and rare DNA variants in patients with galactosemia.
Maroulis V et al.
Frontiers in 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
Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.
Heathfield LJ et al.
International Journal of Legal Medicine, 2020
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Papachristoforou R et al.
Annals of Human 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
Hereditary galactosemia.
Demirbas D et al.
Metabolism: Clinical and Experimental, 2018
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
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
Boemer F et al.
Scientific Reports, 2017
Sweet and sour: an update on classic galactosemia.
Coelho AI et al.
Journal of Inherited Metabolic Disease, 2017
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Garcia DF et al.
Bmc Medical Genetics, 2016
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
Coelho AI et al.
Molecular Genetics & Genomic Medicine, 2014
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
Milánkovics I et al.
Wiener Klinische Wochenschrift, 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
Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility.
Lukac Bajalo J et al.
Fertility and Sterility, 2005
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
Suzuki M et al.
Human Genetics, 2001