Irene M. L. W. Körver‐Keularts

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

Willem G. van Ginkel, Rianne Jahja, Stephan C. J. Huijbregts et al. · Orphanet Journal of Rare Diseases · 2016 · 73 citations · Full text

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Kim D. Falkenberg, Nancy Braverman, Ann B. Moser et al. · The American Journal of Human Genetics · 2017 · 52 citations · Full text

Allelic Variant, Allelic Expression Imbalance, Genetic Disorder +10

Fast and accurate quantitative organic acid analysis with LC‐QTOF/MS facilitates screening of patients for inborn errors of metabolism

Irene M. L. W. Körver‐Keularts, Ping Wang, Huub W. A. H. Waterval et al. · Journal of Inherited Metabolic Disease · 2018 · 48 citations · Full text

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

Irene M. L. W. Körver‐Keularts, Marjolein Visser, H. D. Bakker et al. · JIMD Reports · 2015 · 34 citations · Full text

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS

Frauke Swieringa, Fiorella A. Solari, Oliver Pagel et al. · Scientific Reports · 2020 · 27 citations · Full text