Marleen C.D.G. Huigen

Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Karlien L. M. Coene, Leo A. J. Kluijtmans, E. van der Heeft et al. · Journal of Inherited Metabolic Disease · 2018 · 204 citations · Full text

Life Sciences, Molecular Medicine, Mass Spectrometric Analysis +16

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao‐Yan Wen et al. · The American Journal of Human Genetics · 2019 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

Udo F. H. Engelke, Rianne E. van Outersterp, Jona Merx et al. · Journal of Clinical Investigation · 2021 · 63 citations · Full text

Life Sciences, Biochemistry, Epilepsy +15

Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy

Rianne E. van Outersterp, Udo F. H. Engelke, Jona Merx et al. · Analytical Chemistry · 2021 · 36 citations · Full text

Life Sciences, Biochemistry, Drug Discovery +16

A novel real-time PCR assay to determine relative replication capacity for HIV-1 protease variants and/or reverse transcriptase variants

Noortje M. van Maarseveen, Marleen C.D.G. Huigen, D. de Jong et al. · Journal of Virological Methods · 2005 · 35 citations

Life Sciences, Infectious Diseases, Molecular Biology +14