| 1 |
34918784 | AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts. | 2022 May |
3 |
| 2 |
35346295 | Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living. | 2022 Mar 28 |
1 |
| 3 |
34641485 | Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions. | 2021 Sep 30 |
2 |
| 4 |
34641605 | Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach. | 2021 Oct 7 |
2 |
| 5 |
31604675 | Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia. | 2020 Jan 8 |
1 |
| 6 |
31774565 | Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK. | 2020 May |
4 |
| 7 |
31845337 | The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes. | 2020 May |
1 |
| 8 |
31845342 | 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. | 2020 May |
1 |
| 9 |
31954591 | The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes. | 2020 Mar |
1 |
| 10 |
32138379 | Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells. | 2020 Mar 3 |
2 |
| 11 |
33115496 | Biomarker discovery in attention deficit hyperactivity disorder: RNA sequencing of whole blood in discordant twin and case-controlled cohorts. | 2020 Oct 28 |
1 |
| 12 |
30718057 | The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. | 2019 Apr |
1 |
| 13 |
30987402 | Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure. | 2019 Apr 4 |
1 |
| 14 |
31497475 | Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula. | 2019 Sep |
1 |
| 15 |
33072978 | Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate. | 2019 Jun |
1 |
| 16 |
28913702 | Impaired fertility and motor function in a zebrafish model for classic galactosemia. | 2018 Jan |
1 |
| 17 |
29409891 | Hereditary galactosemia. | 2018 Jun |
2 |
| 18 |
28065439 | Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. | 2017 Mar |
1 |
| 19 |
28075131 | Classical Galactosemia: Insight into Molecular Pathomechanisms by Differential Membrane Proteomics of Fibroblasts under Galactose Stress. | 2017 Feb 3 |
2 |
| 20 |
27919945 | The Leloir Pathway of Galactose Metabolism - A Novel Therapeutic Target for Hepatocellular Carcinoma. | 2016 Dec |
1 |
| 21 |
25398792 | Allelic variation, aneuploidy, and nongenetic mechanisms suppress a monogenic trait in yeast. | 2015 Jan |
1 |
| 22 |
25553891 | Structure activity relationships of human galactokinase inhibitors. | 2015 Feb 1 |
1 |
| 23 |
25592817 | Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. | 2015 Apr 1 |
1 |
| 24 |
25681079 | A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. | 2015 |
1 |
| 25 |
25814382 | Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model. | 2015 |
2 |
| 26 |
25268296 | Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency. | 2014 Dec |
2 |
| 27 |
25614870 | Functional and structural impact of the most prevalent missense mutations in classic galactosemia. | 2014 Nov |
4 |
| 28 |
22773758 | Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia. | 2013 Jan |
2 |
| 29 |
23319291 | Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia. | 2013 Nov |
1 |
| 30 |
22018723 | Innovative therapy for Classic Galactosemia - tale of two HTS. | 2012 Jan |
1 |
| 31 |
22087537 | Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia. | 2012 Feb 3 |
4 |
| 32 |
22461411 | Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. | 2012 Jul |
2 |
| 33 |
22963887 | Detection of common mutations in the GALT gene through ARMS. | 2012 Nov 10 |
2 |
| 34 |
21960482 | Structural and molecular biology of type I galactosemia: disease-associated mutations. | 2011 Nov |
1 |
| 35 |
20519569 | A Drosophila melanogaster model of classic galactosemia. | 2010 Sep-Oct |
3 |
| 36 |
20725869 | Generalized epimerase deficiency galactosemia. | 2010 Aug |
2 |
| 37 |
17981065 | Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE). | 2008 Feb |
11 |
| 38 |
17643331 | Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model. | 2007 Sep-Oct |
1 |
| 39 |
18089596 | Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age. | 2007 Dec |
2 |
| 40 |
16260165 | Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose. | 2006 Feb |
1 |
| 41 |
16988899 | Two familial cases of high blood galactose of unknown aetiology. | 2006 Dec |
1 |
| 42 |
15976715 | [Vitreous hemorrhage in a neonate with galactosemia. A case report]. | 2005 May |
1 |
| 43 |
16169270 | Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model. | 2005 Nov |
6 |
| 44 |
16858969 | Galactosemia in Thai patient at Phramongkutklao Hospital: a case report. | 2005 Nov |
1 |
| 45 |
15172000 | Extended [13C]galactose oxidation studies in patients with galactosemia. | 2004 Jun |
1 |
| 46 |
12552079 | Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. | 2003 Feb |
1 |
| 47 |
12626383 | GALT deficiency causes UDP-hexose deficit in human galactosemic cells. | 2003 Apr |
1 |
| 48 |
12704219 | Insights into the pathogenesis of galactosemia. | 2003 |
1 |
| 49 |
12869412 | The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovarian cancer. | 2003 Jul |
2 |
| 50 |
11919338 | Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. | 2002 Apr |
1 |