Associated Papers
The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.
Baker HA et al.
Journal of Cell Science, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Transient Cytopenias as a Rare Presentation of Classic Galactosemia.
Gianniki M et al.
Cureus, 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
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Treacy EP et al.
Jimd Reports, 2021
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.
Korner M et al.
Orphanet Journal of Rare Diseases, 2019
Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
Schulpis KH et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2017
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Schadewaldt P et al.
Archives of Physiology and Biochemistry, 2014
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
Singh R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Significance of metal ions in galactose-1-phosphate uridylyltransferase: an essential structural zinc and a nonessential structural iron.
Geeganage S et al.
Biochemistry, 1999
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L et al.
Human Mutation, 1999
Molecular and biochemical basis of galactosemia.
Wang BB et al.
Molecular Genetics and Metabolism, 1998
The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
Elsevier JP et al.
The Journal of Biological Chemistry, 1996
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
Maceratesi P et al.
Human Mutation, 1996
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
Elsas LJ et al.
American Journal of Human Genetics, 1995
A molecular approach to galactosemia.
Elsas LJ et al.
European Journal of Pediatrics, 1995
A common mutation associated with the Duarte galactosemia allele.
Elsas LJ et al.
American Journal of Human Genetics, 1994
Molecular characterization of the H319Q galactosemia mutation.
Reichardt JK et al.
Human Molecular Genetics, 1993
The molecular biology of galactosemia.
Elsas LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0