Research output per year
Research output per year
Personal profile
Research interests
Inherited metabolic disorders with the emphasis on peroxisomal and mitochondrial fatty acid oxidation disorders.
Specialisation
Clinical Biochemical Geneticist
Education/Academic qualification
PhD
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC–MS/MS method
Sasarman, F., Ferdinandusse, S., Sinasac, D. S., Fung, E., Sparkes, R., Reeves, M., Rombough, C., Sass, J. R. O., Voit, R., Ruiter, J. P. N., Koster, J., Waterham, H. R., Pasquini, E., Donati, M. A., Marquardt, T., Wanders, R. J. A. & Al-Hertani, W., May 2022, In: Journal of Inherited Metabolic Disease. 45, 3, p. 445-455 11 p.Research output: Contribution to journal › Article* › Academic › peer-review
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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
Open Access -
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Werner, K. M., Cox, A. J., Qian, E., Jain, P., Ji, W., Tikhonova, I., Castaldi, C., Bilguvar, K., Knight, J., Ferdinandusse, S., Fawaz, R., Jiang, Y-H., Gallagher, P. G., Bizzarro, M., Gruen, J. R., Bale, A. & Zhang, H., Jan 2022, In: American Journal of Medical Genetics. Part A. 188, 1, p. 357-363 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, N., Hedberg-Oldfors, C., Régal, L., Donker Kaat, L., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G. & Ferdinandusse, S., 2022, (E-pub ahead of print) In: Journal of Inherited Metabolic Disease.Research output: Contribution to journal › Article* › Academic › peer-review
Open Access -
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Hagemeijer, M. C., Oussoren, E., Ruijter, G. J. G., Onkenhout, W., Huidekoper, H. H., Ebberink, M. S., Waterham, H. R., Ferdinandusse, S., de Vries, M. C., Huigen, M. C. D. G., Kluijtmans, L. A. J., Coene, K. L. M. & Blom, H. J., 2021, In: JIMD REPORTS. 61, 1, p. 12-18 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
Open Access