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American Journal of Human Genetics|December 31, 2005
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysisSacha Ferdinandusse, Mari S Ylianttila, Jolein Gloerich, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|September 2, 2008
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA estersCarlo W T van Roermund, Wouter F Visser, Lodewijk Ijlst, et al.Nucleic Acids Research|December 1, 2006
PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and diseaseAgatha Schlüter, Stéphane Fourcade, Enric Domènech-Estévez, et al.Nederlands Tijdschrift Voor Geneeskunde|August 22, 2008
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]B T van Maldegem, M Duran, R J A Wanders, et al.Journal of Inherited Metabolic Disease|August 3, 2020
Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubesBart Lagerwaard, Olga Pougovkina, Anna F Bekebrede, et al.The Journal of Pediatrics|November 1, 2002
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblastsFredoen Valianpour, Ronald J A Wanders, Henk Overmars, et al.Human Molecular Genetics|February 12, 2014
Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidationOlga Pougovkina, Heleen te Brinke, Rob Ofman, et al.Journal of the American College of Cardiology|December 10, 2003
Phospholipid abnormalities in children with Barth syndromeMichael Schlame, Richard I Kelley, Annette Feigenbaum, et al.Stem Cell Research|June 25, 2013
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndromeJan Dudek, I-Fen Cheng, Martina Balleininger, et al.Journal of Medical Genetics|April 11, 2013
Rhizomelic chondrodysplasia punctata and cardiac pathologyIrene C Huffnagel, Sally-Ann B Clur, Annemieke M Bams-Mengerink, et al.Pageof 48