Monique van Scherpenzeel

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley et al. · The American Journal of Human Genetics · 2013 · 240 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Galectin‐3‐Binding Glycomimetics that Strongly Reduce Bleomycin‐Induced Lung Fibrosis and Modulate Intracellular Glycan Recognition

Tamara Delaine, P.M. Collins, Alison C. MacKinnon et al. · ChemBioChem · 2016 · 198 citations · Full text

Life Sciences, Medicinal Chemistry, Pharmacology +17

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 150 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5