Best Of JIMD Reports

This episode hi-lights JIMD Reports, the open acc…

An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Best Of JIMD Reports" was published on November 6, 2020 and runs 32 minutes.

November 6, 2020 ·32m · JIMD Podcasts

Summary

This episode hi-lights JIMD Reports, the open access companion journal to the Journal of Inherited Metabolic Disease. We’ve chosen to hi-light 5 very different papers and are joined by 7 of the authors to discuss their work. Professor Eileen Treacy discusses Trimethylaminuria, Dr Khushbu Patel and Dr Bill Phipps explain alternative amino acid analysis techniques (at 00:07:30), Dr Joyanna Hansen looks at what the Simplified Diet means in the US (00:13:13), Dr Amy Kritzer explains why they skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder (00:19:08) and Professor Simon Heales and Dr Stefan Krywawych look at the utility of ear wax for detecting IMD (00:24:37). The genetic and biochemical basis of trimethylaminuria in an Irish cohort Samantha Doyle et al. https://doi.org/10.1002/jmd2.12028 Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler William S. Phipps et al. https://doi.org/10.1002/jmd2.12080 Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians Joyanna Hansen et al. https://doi.org/10.1002/jmd2.12106 Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention Amy Kritzer et al. https://doi.org/10.1002/jmd2.12152 Earwax: A potentially useful medium to identify inborn errors of metabolism? Stefan Krywawych et al. https://doi.org/10.1002/jmd2.12102

Episode Description