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
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Dive into the research topics where Sacha Ferdinandusse is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders
Oud, M. M., Ferreira, E. A., van Karnebeek, C. D. M., Wijngaard, R., Wolf, N. I., Engelen, M., Datema, M., Ferdinandusse, S., van Kuilenburg, A. B. P., Steinbusch, L. & ZOEMBA Study Group, 1 Sept 2026, In: Journal of inherited metabolic disease. 49, 5, p. e70238 e70238.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Downloads (Pure) -
Disorders of fatty acid homeostasis
Vaz, F. M., Ferdinandusse, S., Salomons, G. S. & Wanders, R. J. A., Jan 2025, In: Journal of inherited metabolic disease.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile67 Downloads (Pure) -
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
Balfoort, B. M., van den Broeck, F., Boon, C. J. F., Brouwers, M. C. G. J., Diederen, R. M. H., Dhillon, P. & GACR “Bird's Eye View” Consortium, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12842.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile39 Downloads (Pure) -
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency
Al-Amrani, F., Ruiter, J. P. N., Doolaard, M., Kumar, A., Ferdinandusse, S. & Al-Thihli, K., Feb 2025, In: American journal of medical genetics. Part A.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile83 Downloads (Pure) -
Bile Acids
Ferdinandusse, S. & Vaz, F. M., 1 Jan 2024, Laboratory Guide to the Methods in Biochemical Genetics: Second Edition. Springer International Publishing, p. 249-265 (Laboratory Guide to the Methods in Biochemical Genetics: Second Edition).Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
Open AccessFile34 Downloads (Pure)