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Heterozygous DHDDS variants
Manage episode 431951901 series 3001064
Kandungan disediakan oleh JIMD Podcasts and Journal of Inherited Metabolic Disease. Semua kandungan podcast termasuk episod, grafik dan perihalan podcast dimuat naik dan disediakan terus oleh JIMD Podcasts and Journal of Inherited Metabolic Disease atau rakan kongsi platform podcast mereka. Jika anda percaya seseorang menggunakan karya berhak cipta anda tanpa kebenaran anda, anda boleh mengikuti proses yang digariskan di sini https://ms.player.fm/legal.
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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