Heterozygous DHDDS variants
Dr Irena Muffels is joined by Professor Eva Morav…
An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Heterozygous DHDDS variants" was published on August 2, 2024 and runs 18 minutes.
August 2, 2024 ·18m · JIMD Podcasts
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Summary
Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants I. J. J. Muffels, et al https://doi.org/10.1002/jimd.12769
Episode Description
Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways.
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants
I. J. J. Muffels, et al
https://doi.org/10.1002/jimd.12769
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