These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
8. Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study. Knerr I; Coss KP; Kratzsch J; Crushell E; Clark A; Doran P; Shin Y; Stöckmann H; Rudd PM; Treacy E Pediatr Res; 2015 Sep; 78(3):272-9. PubMed ID: 26053138 [TBL] [Abstract][Full Text] [Related]
9. The natural history of classic galactosemia: lessons from the GalNet registry. Rubio-Gozalbo ME; Haskovic M; Bosch AM; Burnyte B; Coelho AI; Cassiman D; Couce ML; Dawson C; Demirbas D; Derks T; Eyskens F; Forga MT; Grunewald S; Häberle J; Hochuli M; Hubert A; Huidekoper HH; Janeiro P; Kotzka J; Knerr I; Labrune P; Landau YE; Langendonk JG; Möslinger D; Müller-Wieland D; Murphy E; Õunap K; Ramadza D; Rivera IA; Scholl-Buergi S; Stepien KM; Thijs A; Tran C; Vara R; Visser G; Vos R; de Vries M; Waisbren SE; Welsink-Karssies MM; Wortmann SB; Gautschi M; Treacy EP; Berry GT Orphanet J Rare Dis; 2019 Apr; 14(1):86. PubMed ID: 31029175 [TBL] [Abstract][Full Text] [Related]
10. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Sturiale L; Barone R; Fiumara A; Perez M; Zaffanello M; Sorge G; Pavone L; Tortorelli S; O'Brien JF; Jaeken J; Garozzo D Glycobiology; 2005 Dec; 15(12):1268-76. PubMed ID: 16037488 [TBL] [Abstract][Full Text] [Related]
11. The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes. Welsink-Karssies MM; van Weeghel M; Hollak CEM; Elfrink HL; Janssen MCH; Lai K; Langendonk JG; Oussoren E; Ruiter JPN; Treacy EP; de Vries M; Ferdinandusse S; Bosch AM Mol Genet Metab; 2020 Mar; 129(3):171-176. PubMed ID: 31954591 [TBL] [Abstract][Full Text] [Related]
12. The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia. Lebea PJ; Pretorius PJ Med Hypotheses; 2005; 65(6):1051-7. PubMed ID: 16125333 [TBL] [Abstract][Full Text] [Related]
13. IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia. Coss KP; Byrne JC; Coman DJ; Adamczyk B; Abrahams JL; Saldova R; Brown AY; Walsh O; Hendroff U; Carolan C; Rudd PM; Treacy EP Mol Genet Metab; 2012 Feb; 105(2):212-20. PubMed ID: 22133299 [TBL] [Abstract][Full Text] [Related]
14. Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model. Jumbo-Lucioni P; Parkinson W; Broadie K Dis Model Mech; 2014 Dec; 7(12):1365-78. PubMed ID: 25326312 [TBL] [Abstract][Full Text] [Related]
15. Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency. Abu Bakar N; Voermans NC; Marquardt T; Thiel C; Janssen MCH; Hansikova H; Crushell E; Sykut-Cegielska J; Bowling F; MØrkrid L; Vissing J; Morava E; van Scherpenzeel M; Lefeber DJ Transl Res; 2018 Sep; 199():62-76. PubMed ID: 30048639 [TBL] [Abstract][Full Text] [Related]
16. Validation of an automated ultraperformance liquid chromatography IgG N-glycan analytical method applicable to classical galactosaemia. Colhoun HO; Treacy EP; MacMahon M; Rudd PM; Fitzgibbon M; O'Flaherty R; Stepien KM Ann Clin Biochem; 2018 Sep; 55(5):593-603. PubMed ID: 29444593 [TBL] [Abstract][Full Text] [Related]
17. Engineering nucleotide sugar synthesis pathways for independent and simultaneous modulation of N-glycan galactosylation and fucosylation in CHO cells. Prabhu A; Shanmugam D; Gadgil M Metab Eng; 2022 Nov; 74():61-71. PubMed ID: 36152932 [TBL] [Abstract][Full Text] [Related]
18. Profiling the N-Glycan Composition of IgG with Lectins and Capillary Nanogel Electrophoresis. Lu G; Holland LA Anal Chem; 2019 Jan; 91(2):1375-1383. PubMed ID: 30525457 [TBL] [Abstract][Full Text] [Related]
19. Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review. Maratha A; Colhoun HO; Knerr I; Coss KP; Doran P; Treacy EP JIMD Rep; 2017; 34():33-42. PubMed ID: 27502837 [TBL] [Abstract][Full Text] [Related]
20. Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia. Mangini L; Lawrence R; Lopez ME; Graham TC; Bauer CR; Nguyen H; Su C; Ramphal J; Crawford BE; Hartl TA JIMD Rep; 2024 Jul; 65(4):280-294. PubMed ID: 38974607 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]