Hepatic presentations in mitochondrial depletion syndromes

JIMD Podcasts
19/01/2024 10 min
Hepatic presentations in mitochondrial depletion syndromes

Listen "Hepatic presentations in mitochondrial depletion syndromes"

Descargar episodio Ver en sitio original

Episode Synopsis

In this podcast, Dr Roshni Vara discusses the experience of a single paediatric liver centre with children whose liver failure arose due to a mitochondrial DNA depletion syndrome.

Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience
R. Vara, et al
https://doi.org/10.1002/jimd.12633

More episodes of the podcast JIMD Podcasts

Manganese transporter disorders: diagnosis and treatment 06/01/2026
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants 30/12/2025
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff 23/12/2025
Continuous Glucose Monitoring in hepatic GSDs 16/12/2025
Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS 09/12/2025
Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials 02/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders 25/11/2025
Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis 18/11/2025
IMD Research Round-Up: Mitochondrial disease 11/11/2025
First in human gene editing: a new era for IMD therapies 04/11/2025
© 2003-2026 ZARZA | AHEAD OF OUR TIME
privacy policy
In God we trust In God we trust
PreSales Questions? Click Here
or call our toll-free line at +1-888-5002068 Miami, Florida, USA