Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
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
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
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
The genetic basis of classical galactosaemia in Polish patients.
Jezela-Stanek A et al.
Orphanet Journal of Rare Diseases, 2021
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf
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
22975760 (PubMed )
Supplement: gim2012114x1.pdf
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
Milánkovics I et al.
Wiener Klinische Wochenschrift, 2010
The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
Mirzajani F et al.
Clinical Biochemistry, 2006
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
Zekanowski C et al.
Journal of Medical Screening, 2001
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
Kozák L et al.
Human Mutation, 2000
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