Sacha Ferdinandusse
8PUBLICATIONS
11CO-AUTHORS
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Publications (8)
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|Feb 17, 2026
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.Marit Schwantje, Rose E Maase, Eugenie Dekkers
|May 02, 2024
Disorders of fatty acid homeostasis.Frédéric M Vaz, Sacha Ferdinandusse, Gajja S Salomons
|Feb 19, 2024
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.Marit Schwantje, Signe Mosegaard, Suzan J G Knottnerus
|Apr 11, 2022
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.Marit Schwantje, Merel S Ebberink, Mirjam Doolaard
|Feb 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.Richard G Lee, Shanti Balasubramaniam, Maike Stentenbach
|Oct 20, 2021
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke
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Frequent Collaborators
6 joint publications
Frédéric M Vaz
2 joint publications
Riekelt H Houtkooper
2 joint publications
Marit Schwantje
2 joint publications
Sabine A Fuchs
1 joint publications
Gepke Visser
1 joint publications
Jan Bert van Klinken
1 joint publications
Aleksandra Filipovska
1 joint publications
Signe Mosegaard
1 joint publications
Gajja S Salomons
1 joint publications
Ronald J A Wanders
