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
Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.
Lotz-Havla AS et al.
Journal of Clinical Medicine, 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
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
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Yuzyuk T et al.
Journal of Inherited Metabolic Disease, 2018
Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations.
Shin YS et al.
Bratislavske Lekarske Listy, 2004
Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.
Shin YS et al.
Journal of Inherited Metabolic Disease, 1999
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
Greber-Platzer S et al.
Human Mutation, 1997
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
Shin YS et al.
European Journal of Pediatrics, 1996
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
Gathof BS et al.
Human Genetics, 1995
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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