Disorders of mitochondrial fatty acyl‐CoA β‐oxidation
Ronald J. A. Wanders(University of Amsterdam), Lodewijk IJlst(Amsterdam UMC Location University of Amsterdam), P. Vreken(Amsterdam UMC Location University of Amsterdam), Frits A. Wijburg(Emma Kinderziekenhuis), M. E. J. den Boer(Amsterdam UMC Location University of Amsterdam), A. H. van Gennip(Amsterdam UMC Location University of Amsterdam)
Cited by 262
Related Papers
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies
|Nature Medicine|2014|838
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
|Proceedings of the National Academy of Sciences|2008|725
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
|Molecular Genetics and Metabolism|2012|478
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study
|Journal of the American Society of Nephrology|2016|421