Daisy Rymen

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh et al. · The Lancet · 2022 · 189 citations · Full text

Metabolic Syndrome, Lipid Disorder, Cardiovascular Disease +7

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Abnormal Protein Glycosylation, Biochemistry, Disease Mechanism +11

Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype

Eline Blommaert, Romain Péanne, Daisy Rymen et al. · Proceedings of the National Academy of Sciences · 2019 · 88 citations · Full text

MAN1B1 Deficiency: An Unexpected CDG-II

Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón et al. · PLoS Genetics · 2013 · 87 citations · Full text

Metabolic Disorder, Genetics, Glycobiology +17