ZARZA We are Zarza, the prestigious firm behind major projects in information technology.
Listen "IMD Research Round-Up: Methylmalonic Aciduria"
Episode Synopsis
Dr Sabine Fuchs, Professor of Metabolic diseases and innovative therapies at the UMC Utrecht, and Dr Sean Froese, a Principal Investigator in the Metabolism Division at University Children’s Hospital Zürich, join Rodrigo and Silvia to discuss new insights and some of their favourite papers on Methylmalonic Aciduria.
Authors opinions are their own and do not represent their institutions.
Papers discussed include:
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
Forny et al
Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.
Head et al
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli et al
Prime editing for functional repair in patient-derived disease models
Schene et al
Mutation-specific reporter for optimization and enrichment of prime editing
Schene et al
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli et al
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.
Molema et al
Authors opinions are their own and do not represent their institutions.
Papers discussed include:
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
Forny et al
Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.
Head et al
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli et al
Prime editing for functional repair in patient-derived disease models
Schene et al
Mutation-specific reporter for optimization and enrichment of prime editing
Schene et al
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli et al
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.
Molema et al
More episodes of the podcast JIMD Podcasts
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
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
25/11/2025
IMD Research Round-Up: Mitochondrial disease
11/11/2025
In God we trust