Sacha Ferdinandusse

9PUBLICATIONS
18CO-AUTHORS
Psychology of ageingNeonatologyMedical biochemistry - amino acids and metabolitesMedical biochemistry - lipidsMedical biochemistry - proteins and peptides (incl. medical proteomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (9)

|Aug 21, 2026
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

|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

Pageof 2

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