Barth Syndrome (part 2): Screening, modelling and more

The second half of our Barth Syndrome special issue tie in podcast features guest presenter Erik Lontok of the Barth Syndrome Foundation. The podcast looks at the work of Fred Vaz, Bill Pu, Jan Dudek, Christophe Maack and Adam Chicco, all of whom are working to advance our knowledge of Barth Syndrome. Skip to specific papers at the timing below: Dr Fred Vaz, from 2 minutes Dr Bill Pu, from 14 minutes Dr Christophe Macao and Dr Jan Dudek, from 21:45 Dr Adam Chicco, from 31 minutes, 50 seconds. Featured papers: An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio Frédéric M. Vaz, et al https://doi.org/10.1002/jimd.12425 Experimental models of Barth syndrome William T. Pu https://doi.org/10.1002/jimd.12423 Mechano-energetic aspects of Barth syndrome Jan Dudek & Christoph Maack https://doi.org/10.1002/jimd.12427 Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy Kathryn C. Chatfield, et al https://doi.org/10.1002/jimd.12459