Associated Papers
AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts.
Brophy ML et al.
Journal of Inherited Metabolic Disease, 2022
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Teke Kisa P et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.
Stockmann H et al.
Jimd Reports, 2016
N-glycan abnormalities in children with galactosemia.
Coss KP et al.
Journal of Proteome Research, 2014
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia.
Coss KP et al.
Molecular Genetics and Metabolism, 2012
[Galactosemia: the genotype and phenotype of seven patients].
Martins E et al.
Revista De Neurologia, 0
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