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Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Int J Mol Sci. 2020 Jun 30;21(13):4654. doi: 10.3390/ijms21134654.
Int J Mol Sci. 2020.
PMID: 32629928
Free PMC article.
Review.
Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblasts.
Rahm M, Kwast H, Wessels HJCT, Noga MJ, Lefeber DJ.
Rahm M, et al.
Anal Bioanal Chem. 2024 Jun;416(15):3595-3604. doi: 10.1007/s00216-024-05313-w. Epub 2024 Apr 27.
Anal Bioanal Chem. 2024.
PMID: 38676823
Free PMC article.
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MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
Post MA, de Wit I, Zijlstra FSM, Engelke UFH, van Rooij A, Christodoulou J, Tan TY, Le Fevre A, Jin D, Yaplito-Lee J, Lee BH, Low KJ, Mallick AA, Õunap K, Pitt J, Reardon W, Vals MA, Wortmann SB, Wessels HJCT, Bärenfänger M, van Karnebeek CDM, Lefeber DJ.
Post MA, et al.
J Inherit Metab Dis. 2023 Mar;46(2):313-325. doi: 10.1002/jimd.12588. Epub 2023 Feb 1.
J Inherit Metab Dis. 2023.
PMID: 36651519
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