Walinka van Tol

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation

Moniek Riemersma, D. Sean Froese, Walinka van Tol et al. · Chemistry & Biology · 2015 · 78 citations · Full text

Human Ispd, Oligonucleotide, Cellular Biochemistry +4

Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs

Monique van Scherpenzeel, Federica Conte, Christian Büll et al. · Glycobiology · 2021 · 30 citations · Full text

Glycobiology, Metabolomic Profiling, Molecular Biology +22

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

Walinka van Tol, Angel Ashikov, Eckhard Korsch et al. · JIMD Reports · 2019 · 18 citations · Full text

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

Walinka van Tol, Monique van Scherpenzeel, Mohammad Alsady et al. · Clinical Chemistry · 2019 · 17 citations · Full text

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

Peter Van den Bergh, Yves Sznajer, Vinciane Van Parys et al. · Neuromuscular Disorders · 2017 · 12 citations · Full text

Rare Diseases, Genetic Disorder, Homozygous Dpm3 Mutation +6