Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.
Nguyen TT et al.
Molecular Genetics & Genomic Medicine, 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
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
Screening for galactosemia: is there a place for it?
Kotb MA et al.
International Journal of General Medicine, 2019
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
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
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
Clinical Genetics, 2017
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
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
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
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.
Liu Y et al.
Molecular Genetics and Metabolism, 2012
Problems with the new born screen for galactosaemia.
Malone JI et al.
Bmj Case Reports, 2011
Diagnosis of inherited disorders of galactose metabolism.
Cuthbert C et al.
Current Protocols in Human Genetics, 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
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
Calderon FR et al.
Journal of Inherited Metabolic Disease, 2007
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.
Coffee B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Prevention of a molecular misdiagnosis in galactosemia.
Barbouth D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Berry GT et al.
Pediatric Research, 2000
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Outcomes analysis of verbal dyspraxia in classic galactosemia.
Robertson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0