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Page 1
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.
Knottnerus SJG, Bleeker JC, Wüst RCI, Ferdinandusse S, IJlst L, Wijburg FA, Wanders RJA, Visser G, Houtkooper RH. Knottnerus SJG, et al. Among authors: bleeker jc. Rev Endocr Metab Disord. 2018 Mar;19(1):93-106. doi: 10.1007/s11154-018-9448-1. Rev Endocr Metab Disord. 2018. PMID: 29926323 Free PMC article. Review.
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer.
Knottnerus SJG, van Harskamp D, Schierbeek H, Bleeker JC, Crefcoeur LL, Ferdinandusse S, van Goudoever JB, Houtkooper RH, IJlst L, Langeveld M, Wanders RJA, Vaz FM, Wijburg FA, Visser G. Knottnerus SJG, et al. Among authors: bleeker jc. Clin Nutr. 2021 Mar;40(3):1396-1404. doi: 10.1016/j.clnu.2020.08.032. Epub 2020 Sep 4. Clin Nutr. 2021. PMID: 32948349
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Verkerk AO, Knottnerus SJG, Portero V, Bleeker JC, Ferdinandusse S, Guan K, IJlst L, Visser G, Wanders RJA, Wijburg FA, Bezzina CR, Mengarelli I, Houtkooper RH. Verkerk AO, et al. Among authors: bleeker jc. Front Pharmacol. 2021 Jan 12;11:616834. doi: 10.3389/fphar.2020.616834. eCollection 2020. Front Pharmacol. 2021. PMID: 33597881 Free PMC article.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Visser G, Clarke K, Ferdinandusse S, de Haan FH, Houtkooper RH, IJlst L, Kok IL, Langeveld M, van der Pol WL, de Sain-van der Velden MGM, Sibeijn-Kuiper A, Takken T, Wanders RJA, van Weeghel M, Wijburg FA, van der Woude LH, Wüst RCI, Cox PJ, Jeneson JAL. Bleeker JC, et al. J Inherit Metab Dis. 2020 Jul;43(4):787-799. doi: 10.1002/jimd.12217. Epub 2020 Feb 5. J Inherit Metab Dis. 2020. PMID: 31955429 Free PMC article. Clinical Trial.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G. Bleeker JC, et al. J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30761551
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Knottnerus SJG, Bleeker JC, Ferdinandusse S, Houtkooper RH, Langeveld M, Nederveen AJ, Strijkers GJ, Visser G, Wanders RJA, Wijburg FA, Boekholdt SM, Bakermans AJ. Knottnerus SJG, et al. Among authors: bleeker jc. J Inherit Metab Dis. 2020 Sep;43(5):969-980. doi: 10.1002/jimd.12266. Epub 2020 Jun 5. J Inherit Metab Dis. 2020. PMID: 32463482 Free PMC article.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Knottnerus SJG, Mengarelli I, Wüst RCI, Baartscheer A, Bleeker JC, Coronel R, Ferdinandusse S, Guan K, IJlst L, Li W, Luo X, Portero VM, Ulbricht Y, Visser G, Wanders RJA, Wijburg FA, Verkerk AO, Houtkooper RH, Bezzina CR. Knottnerus SJG, et al. Among authors: bleeker jc. Int J Mol Sci. 2020 Apr 8;21(7):2589. doi: 10.3390/ijms21072589. Int J Mol Sci. 2020. PMID: 32276429 Free PMC article.