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- 2023
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns
Crefcoeur, L. L., Heiner-Fokkema, M. R., Maase, R. E., Visser, G. & de Sain-van der Velden, M. G. M., 1 Jan 2023, In: JIMD reports. 64, 1, p. 57-64 8 p.Research output: Contribution to journal › Article › Academic › peer-review
- 2022
Primary carnitine deficiency is a life-long disease
Crefcoeur, L. L., Melles, M. C., Bruning, T. A., Pereira, R. R. & Langendonk, J. G., 1 Nov 2022, In: JIMD reports. 63, 6, p. 524-528 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach
Crefcoeur, L. L., Visser, G., Ferdinandusse, S., Wijburg, F. A., Langeveld, M. & Sjouke, B., May 2022, In: Journal of inherited metabolic disease. 45, 3, p. 386-405 20 p.Research output: Contribution to journal › Review article › Academic › peer-review
- 2021
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer
Knottnerus, S. J. G., van Harskamp, D., Schierbeek, H., Bleeker, J. C., Crefcoeur, L. L., Ferdinandusse, S., van Goudoever, J. B., Houtkooper, R. H., IJlst, L., Langeveld, M., Wanders, R. J. A., Vaz, F. M., Wijburg, F. A. & Visser, G., Mar 2021, In: Clinical nutrition (Edinburgh, Scotland). 40, 3, p. 1396-1404 9 p.Research output: Contribution to journal › Article › Academic › peer-review
- 2020
Neonatal carnitine concentrations in relation to gestational age and weight
Crefcoeur, L. L., de Sain-van der Velden, M. G. M., Ferdinandusse, S., Langeveld, M., Maase, R., Vaz, F. M., Visser, G., Wanders, R. J. A., Wijburg, F. A., Verschoof-Puite, R. K. & Schielen, P. C. J. I., 1 Nov 2020, In: JIMD reports. 56, 1, p. 95-104 10 p.Research output: Contribution to journal › Article › Academic › peer-review
ID: 5988862