Listen "Barth Syndrome (part 2): Screening, modelling and more"
Episode Synopsis
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
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
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