JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new...
Dr Jessica Gold discusses observations around executive function in early treated MSUD patients and how this impacts on outcomes around transition to adulthood.
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease
Jessica I. Gold, et al
https://doi.org/10.1002/jimd.12827
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16:30
Metabolic Mysteries: Hypoglycemia? Don't forget the urine
Dr Ashlee Stiles discusses the work-up of a 13-month-old girl with hypoglycaemia and discusses the need to balance prompt metabolic work-up with managing the acutely unwell patient in front of you. Critical sample collection is key and don't forget the urine.
Read the report here: https://www.sciencedirect.com/science/article/pii/S2214426924000156?via%3Dihub
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6:11
Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing
Dr Thomas Cassini explains how the Undiagnosed Diseases Network group used advanced sequencing techniques to clarify the genotype in a child with an unusual phenotype for mitochondrial trifunctional protein deficiency.
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
Thomas Cassini, et al
https://doi.org/10.1002/jmd2.12459
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3:05
CBS Deficiency in the E-HOD Registry
Dr Andrew Morris joins the podcast to discuss insights from 311 patients with CBS deficiency (classical homocystinuria), their response to treatment and clinical outcomes.
Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment
Andrew A. M. Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Carlo Dionisi-Vici, Matthias R. Baumgartner, Luciana Hannibal, Henk J. Blom, Martina Huemer, Viktor Kožich, E-HOD Consortium
https://doi.org/10.1002/jimd.12844
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15:58
The Treatabolome: Don't miss the chance to treat!
Eva Hoytema van Konijnenburg and Clara van Karnebeek tell the podcast about the treatabolome an epic project to include all current IMD treatments and add them to the IEMbase.
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
Bibiche den Hollander, et al
https://doi.org/10.1002/jimd.12835
JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.
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