Associated Papers
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
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
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 GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
Lee H et al.
Yonsei Medical Journal, 2019
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
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
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
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
Murphy M et al.
European Journal of Human Genetics : Ejhg, 1999
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.
Shin YS et al.
Journal of Inherited Metabolic Disease, 1998
Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
Hirokawa H et al.
European Journal of Human Genetics : Ejhg, 0
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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