| Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle SJG Knottnerus, JC Bleeker, RCI Wüst, S Ferdinandusse, L IJlst, ... Reviews in Endocrine and Metabolic Disorders 19, 93-106, 2018 | 273 | 2018 |
| Electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes can be improved by lowering accumulation of fatty acid oxidation intermediates SJG Knottnerus, I Mengarelli, RCI Wüst, A Baartscheer, JC Bleeker, ... International journal of molecular sciences 21 (7), 2589, 2020 | 30 | 2020 |
| Prediction of phenotypic severity in mucopolysaccharidosis type IIIA SJG Knottnerus, SCM Nijmeijer, L IJlst, H Te Brinke, N van Vlies, ... Annals of neurology 82 (5), 686-696, 2017 | 20 | 2017 |
| Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots SJG Knottnerus, ML Pras-Raves, M van der Ham, S Ferdinandusse, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1866 (6), 165725, 2020 | 16 | 2020 |
| Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study SJG Knottnerus, JC Bleeker, S Ferdinandusse, RH Houtkooper, ... Journal of Inherited Metabolic Disease 43 (5), 969-980, 2020 | 13 | 2020 |
| Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer SJG Knottnerus, D van Harskamp, H Schierbeek, JC Bleeker, ... Clinical nutrition 40 (3), 1396-1404, 2021 | 11 | 2021 |
| Electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes do not improve with carnitine supplementation AO Verkerk, SJG Knottnerus, V Portero, JC Bleeker, S Ferdinandusse, ... Frontiers in pharmacology 11, 616834, 2021 | 6 | 2021 |
| Development and validation of a gas chromatography–mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma D van Harskamp, SJG Knottnerus, G Visser, JB van Goudoever, ... Analytical and bioanalytical chemistry 412, 5789-5797, 2020 | 2 | 2020 |
| Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders M Schwantje, S Mosegaard, SJG Knottnerus, JB van Klinken, RJ Wanders, ... bioRxiv, 2023.08. 31.555571, 2023 | 1 | 2023 |
| Phenotypic severity in MPS IIIA strongly correlates with increase in residual SGSH activity in skin fibroblasts cultured at 30oC S Nijmeijer, S Knottnerus, F Wijburg, N van Vlies Molecular Genetics and Metabolism 1 (120), S103, 2017 | 1 | 2017 |
| Breaking down long-chain fatty acid oxidation disorders: From pathophysiology to better treatment SJG Knottnerus | | 2021 |
| Zorgpad LCHADD en MTP deficientie C Timmer, M Langeveld, P Hollak, G Visser, SJG Knottnerus, ... | | 2019 |
| POSITIVE NBS FOR VLCAD; NOW WHAT? THE DUTCH APPROACH G Visser, S Knottnerus, M Pras-Raves, R Houtkooper, F Vaz, F Wijburg, ... MOLECULAR GENETICS AND METABOLISM 126 (3), 273-273, 2019 | | 2019 |
| Zorgpad VLCAD deficientie voor behandelaren C Timmer, G Visser, SJG Knottnerus, M Langeveld, LW van der Pol, ... | | 2019 |
| Prediction of phenotypic severity in mucopolysaccharidosis type IIIA SCM Nijmeijer, SJG Knottnerus, L IJlst, H te Brinke, N van Vlies, ... Mucopolysaccharidosis type III 82 (5), 23, 2017 | | 2017 |
