PPO Database - projecten

Zoek op naar

Onderzoekslijnen		Alle projecten		Alle publicaties en voordrachten		Instituten

Project 298	Vetzuuroxidatie defecten
Onderzoekslijn	Erfelijke metabole ziekten - mitochondriele vetzuuroxidatie
Omschrijving
Projectleider	Dr. M.R.(Rebecca) Heiner-Fokkema
Instituut	Universitair Medisch Centrum Groningen Groningen
Trefwoorden
Status	Lopend
Periode	1-2009 - 1-2025
Partners
Medewerkers
Financiering	1e Geldstroom - Intern
Publicaties	Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD. Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available. Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles. Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders. Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency. Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism.