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Journal of Inherited Metabolic Disease|August 30, 2017
Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomicsKatharina Herzog, Mia L Pras-Raves, Sacha Ferdinandusse, et al.
Plant Physiology|May 22, 2016
The Peroxisomal NAD Carrier from Arabidopsis Imports NAD in Exchange with AMPCarlo W T van Roermund, Martin G Schroers, Jan Wiese, et al.
The Journal of Biological Chemistry|May 1, 2002
Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recyclingStephanie J Mihalik, Steven J Steinberg, Zhengtong Pei, et al.
Human Mutation|July 9, 2004
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolismJeannette Gootjes, Frank Schmohl, Petra A W Mooijer, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 18, 2009
Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicansKarin Strijbis, Carlo W T van Roermund, Guy P Hardy, et al.
Pediatric Research|September 9, 2005
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial diseaseCelia Perez-Cerda, Judit García-Villoria, Rob Ofman, et al.
Pediatric Research|April 23, 2005
Long-chain fatty acid oxidation during early human developmentNadia A Oey, Margarethe E J den Boer, Frits A Wijburg, et al.
Human Molecular Genetics|October 15, 2005
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damageIsidre Ferrer, Josef P Kapfhammer, Colette Hindelang, et al.
Journal of Inherited Metabolic Disease|December 7, 2017
Plasma lipidomics as a diagnostic tool for peroxisomal disordersKatharina Herzog, Mia L Pras-Raves, Sacha Ferdinandusse, et al.
Human Mutation|June 13, 2019
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiencySacha Ferdinandusse, Heleen Te Brinke, Jos P N Ruiter, et al.
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