Heterozygous DHDDS variants - JIMD Podcasts

What this episode covers

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

Share this episode

Similar Episodes

FV 134 : Dédé l’Ardéchois (Part 1): local heritage and history of the railway

Jun 15, 2022 ·39m

FYW 245 : French slang expressions (4)

Jun 15, 2022 ·8m

FYW 244 : When is “ne” optional in French ?

May 25, 2022 ·20m

FYW 243 : When to capitalise a word in French ?

May 19, 2022 ·16m

FV 133 : (Part 2) The “vin de pomme” from Pays Basque

May 15, 2022 ·34m

FYW : Live workshops are back! May 2022

May 12, 2022 ·1m

Similar Podcasts

French Your Way Jessica: Native French teacher founder of French Your Way Boost your French listening skills and test your comprehension with this one of a kind series of podcasts. Get the chance to listen to a real conversation between native speakers talking at normal speed AND customise your learning experience through carefully designed sets of questions (2 levels of difficulty) available for download at www.frenchvoicespodcast.com. All interviews also come with the transcript. French teacher Jessica interviews native speakers of French from around the world who share a bit of their life and passion. Where else would you meet in one same place a French yoga teacher based in Melbourne, a soap manufacturer from Provence, or a couple cycling around the world? The Lee Olsen Show Lee Olsen CJF I want to help you improve all areas of your life by 3 types of podcasts!👉Blood, Sweat & Blessings-Interviews of normal people that have achieved BIG things!👉Series!!! For Love of the Horse- Brad Jackman DVM & Lee Olsen CJF, how to help your horse!👉Business Tips- Proven Life Changing Business Strategies with Lee Olsen 🎙️Truth and Testimony the Broadcast Ray Gauthier & Adrian Scott This Podcast discusses and teaches the word of God. You will hear about world news and how it relates to bible prophecy. You will also hear interviews and testimonies from men and women of God who have devoted their lives to serving Yeshua (Jesus). Hosted by Ray Gauthier and Adrian Scott. These two long term broadcast colleagues have joined forces once again to provide you the highest quality in broadcast excellence, all for the glory of Yahweh: the God of all creation!You can see most of the podcasts uploaded here at our Youtube Channel.https://www.youtube.com/@truthandtestimonythebroadcast Rich and Weekly Wondery We’re fascinated with the lives of both the famous and the infamous. From the Kardashians and Kendrick to Britney and the Bravo-verse, RICH AND WEEKLY is your dose of the hottest and latest celebrity news. Brooke Siffrinn and Aricia Skidmore-Williams, hosts of the hit series Even the Rich and Even the Royals, spill the tea, dish the dirt, and tell you exactly what they think. New episodes drop every Thursday.Listen to Rich and Weekly on the Wondery App or wherever you get your podcasts. You can listen to all episodes ad-free on Wondery+. Join Wondery+ in the Wondery App, Apple Podcasts or Spotify. Start your free trial by visiting wondery.com/links/rich-and-weekly/ now.

Frequently Asked Questions

How long is this episode of JIMD Podcasts?

This episode is 18 minutes long.

When was this JIMD Podcasts episode published?

This episode was published on August 2, 2024.

What is this episode about?

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...

Can I download this JIMD Podcasts episode?

Yes, you can download this episode by clicking the download button on the episode player, or subscribe to the podcast in your preferred podcast app for automatic downloads.