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Items: 6

1.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy.

van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ.

Clin Chem. 2019 Aug 2. pii: clinchem.2019.305391. doi: 10.1373/clinchem.2019.305391. [Epub ahead of print]

PMID:
31375477
2.

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

van Tol W, Michelakakis H, Georgiadou E, van den Bergh P, Moraitou M, Papadimas GK, Papadopoulos C, Huijben K, Alsady M, Willemsen MA, Lefeber DJ.

J Inherit Metab Dis. 2019 Sep;42(5):984-992. doi: 10.1002/jimd.12095. Epub 2019 Apr 23.

PMID:
30931530
3.

O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.

van Tol W, Wessels H, Lefeber DJ.

Curr Opin Struct Biol. 2019 Jun;56:107-118. doi: 10.1016/j.sbi.2018.12.006. Epub 2019 Jan 30. Review.

4.

Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046].

Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V.

Neuromuscul Disord. 2018 Jan;28(1):101. doi: 10.1016/j.nmd.2017.11.012. Epub 2017 Dec 12. No abstract available.

PMID:
29246662
5.

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.

Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V.

Neuromuscul Disord. 2017 Nov;27(11):1043-1046. doi: 10.1016/j.nmd.2017.07.006. Epub 2017 Jul 17. Erratum in: Neuromuscul Disord. 2017 Dec 12;:.

PMID:
28803818
6.

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

Riemersma M, Froese DS, van Tol W, Engelke UF, Kopec J, van Scherpenzeel M, Ashikov A, Krojer T, von Delft F, Tessari M, Buczkowska A, Swiezewska E, Jae LT, Brummelkamp TR, Manya H, Endo T, van Bokhoven H, Yue WW, Lefeber DJ.

Chem Biol. 2015 Dec 17;22(12):1643-52. doi: 10.1016/j.chembiol.2015.10.014. Epub 2015 Dec 10.

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