PodParley PodParley
PodParley
Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease

EPISODE · Jul 28, 2023 · 4 MIN

Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

Dr Emma Glamuzina of the National Metabolic Service in New Zealand, describes a neonatal presentation of CARS2- related mitochondrial disease and the diagnostic challenges this brought in a pre-exome/genome era. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease Jessie Poquérusse, et al https://doi.org/10.1002/jmd2.12360

NOW PLAYING

Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease

0:00 4:45

No transcript for this episode yet

We transcribe on demand. Request one and we'll notify you when it's ready — usually under 10 minutes.

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? Popup Chinese Popup Chinese Fresh from Beijing, PopupChinese teaches Chinese as it is actually spoken. Start with our basic Chinese lessons, and in no time you'll be speaking like a Beijinger. Our free daily podcasts, vibrant community, and love for the real China make us the most powerful and personal way to learn mandarin. Français avec Pierre Pierre - Français avec Pierre Learn French listening to French podcasts made by French teacher Pierre. You can often have the podcast transcripts in the BLOG http://francaisavecpierre.com . Whenever there is a transcript available, I will put the blog post URL in the podcast episode description, please check it out. You can learn and improve your French listening to the podcasts with lots of interesting topics, French lessons and a lot more. Learn French the fun and easy way!Aprender francés es muy fácil con los podcasts en francés de Pierre. Muchos de ellos vienen con la trasncripción, así que busca la url del post del blog http://francaisavecpierre.com en la descripción del podcast cuando esté disponible. Aprende y mejora tu francés con estas clases de francés de la mano de Pierre, profesor de francés en las Escuelas Oficiales de Idiomas de Madrid.Apprendre le français c’est facile avec Pierre. Ecoute ces podcasts en français et regarde la transcription quand c’est disponible (je m The Inner Circle UBS advisor podcasts Step into The Inner Circle, a dynamic and engaging podcast hosted by The Radius Group of UBS. Leveraging their extensive wealth management experience and a diverse network of industry experts, The Inner Circle explores the latest trends while sharing timeless wealth management techniques. Don’t miss out – elevate your financial knowledge by joining The Inner Circle today!
URL copied to clipboard!