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Journal of Lipid Research|April 5, 2005
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosisFredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|December 13, 2018
Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4Sara Violante, Nihad Achetib, Carlo W T van Roermund, 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.Plos One|August 2, 2017
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factorsMaarten Arends, Marieke Biegstraaten, Derralynn A Hughes, et al.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.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.JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.Molecular Genetics and Metabolism|April 9, 2013
Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKUJudith J Jans, Monique G M de Sain-van der Velden, Peter M van Hasselt, et al.Journal of Inherited Metabolic Disease|August 23, 2024
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteriaEline C B Eskes, Laura van Dussen, Marion M M G Brands, et al.Pageof 55