Associated Papers
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
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
Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
Schulpis KH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
Schulpis KH et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 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
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
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
[Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population].
Milánkovics I et al.
Orvosi Hetilap, 2009
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Carney AE et al.
Human Molecular Genetics, 2009
Galactose-1-phosphate uridyl transferase gene mutations in women with premature ovarian failure.
Mlinar B et al.
Fertility and Sterility, 2005
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
Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.
Karas N et al.
Journal of Inherited Metabolic Disease, 2003
Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
Lukac-Bajalo J et al.
Clinical Chemistry and Laboratory Medicine, 2002
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
Item C et al.
Pediatric Research, 2002
Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations.
Nema N et al.
The National Medical Journal of India, 0