114 episodes
JIMD Podcasts Journal of Inherited Metabolic Disease
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- Science
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5.0 • 3 Ratings
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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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Key terms and definitions In porphyria
Professor Sverre Sandberg joins the podcast to discuss recent work looking to establish key terms and definitions in the acute porphyrias, and explains how this will ultimately help bring forward treatment and research.
EPNet website: http://porphyria.eu
Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network
Penelope E. Stein, et al
https://doi.org/10.1002/jimd.12612 -
PGM1-CDG: isoforms, phenotyping and gene therapy
Dr Silvia Radenkovic, Professor Eva Morava and Professor Kent Lai join the podcast to discuss recent insights that may enable prognostication in PGM1-CDG, and a promising gene therapy study that could address the cardiomyopathy that remains untreated by Galactose therapy.
The role of PGM1 isoform 2 in PGM1-CDG: One step closer to genotype–phenotype correlation?
Silvia Radenkovic, et al
https://doi.org/10.1002/jimd.12601
Interested listeners may want to read gene therapy paper discussed herein:
https://doi.org/10.1016/j.trsl.2023.01.004 -
A novel UHPLC/HRAM MS approach in LSD screening
Dr Marne Hagemeijer joins the podcast to explain how mass spectrometry could simplify the approach to screening urine samples for evidence of Lysosomal Storage Disorders.
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
Marne C. Hagemeijer, et al
https://doi.org/10.1002/jimd.12597 -
Shortcast: Early treatment of neonatal diabetes with oral glibenclamide in extreme prematurity
Professor Michel Polak reports success using a specialist preparation of oral glibenclamide in the management of neonatal diabetes in an extreme preterm infant subsequently found to have a KCNJ11 gene variant.
Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant
Alfonso Galderisi, et al
https://doi.org/10.1002/jmd2.12358 -
Cholestasis, oxysterols and clinical conundrums
Dr Irene Chang and Dr An Dang Do explain how an infant presenting with cholestasis and liver disease kept them guessing, and how the abnormal biochemical findings gave them new insights into other conditions.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation
An N. Dang Do, et al
https://doi.org/10.1002/jimd.12595 -
Shortcast: The remarkable journey of one female individual with OTC deficiency diagnosed post-mortem
Dr RaeLynn Forsyth describes a pioneering patient who contributed to the evolution and understanding or Urea Cycle Disorder treatments throughout her life.
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem
RaeLynn Forsyth, et al
https://doi.org/10.1002/jmd2.12361