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
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
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
Özgül RK et al.
Journal of Human Genetics, 2013
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Facchiano A et al.
Protein Engineering, Design & Selection : Peds, 2010
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Calderon FR et al.
Human Mutation, 2007
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Gort L et al.
Journal of Inherited Metabolic Disease, 2006
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
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
Select a paper to view details