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Abbreviation : CG
Long Form : Classic galactosemia
No. Year Title Co-occurring Abbreviation
2020 Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia. Gal-1-P, GALT, hGALT, i.v, mGalT, RBCs
2020 The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes. Gal-1-P, GI, GMP, NBS
2019 A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism. GALT
2019 Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia. CANTAB, GALT
2019 Early neurological complications in children with classical galactosemia and p.gln188arg mutation. MRI
2019 Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia. POI
2019 Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study. ---
2018 Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions. GALT, POI, UPLC
2018 Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia. AMH, HRT
10  2017 Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. BMD, SD
11  2017 Gastrointestinal Health in Classic Galactosemia. GI
12  2017 International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. GalNet, GRADE
13  2017 Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. CoVs, GALT, NBS
14  2017 Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia. ---
15  2017 Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. FSIQ
16  2016 Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. Gal-1-P, GALK, GALT
17  2016 Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. ---
18  2015 A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. GALT
19  2015 Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia. GALT, NBS
20  2014 Body composition in young patients with galactose metabolic disorders: a preliminary report. ---
21  2014 Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model. CDG, dGALK, dGALT, GALT, HRP, HSPG, NMJ, UDP