Clara D.M. van Karnebeek
University of British Columbia(CA)Queen's University(CA)Amsterdam UMC Location University of Amsterdam(NL)Emma Kinderziekenhuis(NL)Center for Personalized Cancer Treatment(NL)Amsterdam Neuroscience(NL)Pacific Centre for Reproductive Medicine(CA)Child Development Center(QA)Amsterdam University Medical Centers(NL)Amsterdam University Medical Centers(NL)BC Children's Hospital(CA)University of Amsterdam(NL)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, Biochemical and Molecular Research
Most-Cited Works
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → NAD + homeostasis in human health and disease(2021)236 cited
- → Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients(2018)203 cited
- → CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder(2015)135 cited
- → Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app(2021)112 cited
- → Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood(2014)107 cited