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JIMD Podcasts

By: Journal of Inherited Metabolic Disease
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  • Summary

  • A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.
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Episodes
  • Aicardi-Goutières syndrome

    Aicardi-Goutières syndrome
    Apr 26 2024
    Dr Mariko Bennett and Dr Laura Adang discuss the precarious balance between a protective and a destructive immune response, as is seen in inborn errors in nucleotide metabolism. Our discussion focuses on the most common of these disorders: Aicardi Goutières syndrome (AGS). Sadly, despite the many gains in understanding about AGS, there remain many gaps in our understanding of this condition. Nucleotide metabolism, leukodystrophies, and CNS pathology Francesco Gavazzi, et al https://doi.org/10.1002/jimd.12721
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    33 mins
  • Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital

    Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital
    Apr 19 2024
    Dr Gustavo Spolador discusses the paucity of data around palliative care in Inherited Metabolic Disease and some of his own observations in a Brazilian quaternary hospital. Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital Gustavo Marquezani Spolador, et al https://doi.org/10.1002/jmd2.12417
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    5 mins
  • Pregnancy in Urea Cycle Disorders

    Pregnancy in Urea Cycle Disorders
    Apr 12 2024
    This episode brings together two popular podcast topics, pregnancy and urea cycle disorders. Dr Margreet Wagenmakers and Dr Karolina Stepien share recent insights from a literature review and international survey exploring the experiences of mothers with urea cycle disorders. The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey Karolina M. Stepien, et al https://doi.org/10.1002/jimd.12695
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    17 mins
Science
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