Heterozygous DHDDS variants
Aug 02, 2024•18 min
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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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