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Content provided by JIMD Podcasts and Journal of Inherited Metabolic Disease. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by JIMD Podcasts and Journal of Inherited Metabolic Disease or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://staging.podcastplayer.com/legal.
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NAXD deficiency

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Manage episode 479751771 series 3001064
Content provided by JIMD Podcasts and Journal of Inherited Metabolic Disease. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by JIMD Podcasts and Journal of Inherited Metabolic Disease or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://staging.podcastplayer.com/legal.
Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency Nicole J. Van Bergen, et al https://doi.org/10.1002/jimd.12541 NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses Nicole J Van Bergen, et al https://doi.org/10.1093/brain/awy310 Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma Nicole J Van Bergen, et al https://doi.org/10.3390/ijms24043582
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210 episodes

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NAXD deficiency

JIMD Podcasts

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Manage episode 479751771 series 3001064
Content provided by JIMD Podcasts and Journal of Inherited Metabolic Disease. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by JIMD Podcasts and Journal of Inherited Metabolic Disease or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://staging.podcastplayer.com/legal.
Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency Nicole J. Van Bergen, et al https://doi.org/10.1002/jimd.12541 NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses Nicole J Van Bergen, et al https://doi.org/10.1093/brain/awy310 Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma Nicole J Van Bergen, et al https://doi.org/10.3390/ijms24043582
  continue reading

210 episodes

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