Publications by authors named "S Ferdinandusse"

Claim this Profile
P
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
Fatema Al-Amrani, Jos P N Ruiter, Mirjam Doolaard, Alok Kumar, Sacha Ferdinandusse

Am J Med Genet A· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disorders of fatty acid homeostasis.
Frédéric M Vaz, Sacha Ferdinandusse, Gajja S Salomons, Ronald J A Wanders

J Inherit Metab Dis· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Berith M Balfoort, Gioena Pampalone, Jos P N Ruiter, Simone W Denis, Marion M Brands, Sacha Ferdinandusse

Mol Genet Metab· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Frédéric M Vaz, Pippa Staps, Jan Bert van Klinken, Henk van Lenthe, Martin Vervaart, Sacha Ferdinandusse

Biochim Biophys Acta Mol Cell Biol Lipids· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Marit Schwantje, Signe Mosegaard, Suzan J G Knottnerus, Jan Bert van Klinken, Ronald J Wanders, Sacha Ferdinandusse

FASEB J· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis