#dhdds - Twitter Hashtag

2 days ago

Мини-мозги помогли вылечить тяжёлое детское заболевание До недавнего времени родителям таких детей заявляли, что медицина бессильна замедлить прогрессирование недуга. #мозг #медицина #педиатрия #витаминb3 #энцефалопатия #мини-мозг #dhdds

Rid_Life's tweet photo. Мини-мозги помогли вылечить тяжёлое детское заболевание
До недавнего времени родителям таких детей заявляли, что медицина бессильна замедлить прогрессирование недуга.

#мозг #медицина #педиатрия #витаминb3 #энцефалопатия #мини-мозг #dhdds https://t.co/3Ofm9E1XQ7

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James Nurse @DrJNurse

almost 2 years ago

You’ve likely never heard of it and you may never manage it but that doesn’t mean you won’t find this interesting. #DHDDS #raredisease

The Journal of Inherited Metabolic Disease @JIMD_Editors

almost 2 years ago

🚨 New podcast Friday 🚨 🎙 Heterozygous DHDDS Variants with Irena Muffels and Eva Morava. Listen on Apple 👉 https://t.co/iMXZrkPICV Spotify: https://t.co/wGK6sLWVsk Soundcloud: https://t.co/bt2TUOmTC6 @PerlaraPBC @CureDhdds @FrontierCDG @worldCDG

JIMD_Editors's tweet photo. 🚨 New podcast Friday 🚨 🎙
Heterozygous DHDDS Variants with Irena Muffels and Eva Morava.

Listen on Apple 👉 https://t.co/iMXZrkPICV

Spotify: https://t.co/wGK6sLWVsk

Soundcloud: https://t.co/bt2TUOmTC6

@PerlaraPBC @CureDhdds @FrontierCDG @worldCDG https://t.co/tjhftgzG5Z

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Mount Sinai Genetics @SinaiGenetics

almost 2 years ago

Our latest findings on #DHDDS variants: clinical symptoms typically emerge early in life, w/ conditions like ataxia & dystonia manifesting in childhood. Understanding these patterns is crucial for better clinical management: https://t.co/83qEb6B8np #autism

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The Journal of Inherited Metabolic Disease @JIMD_Editors

almost 2 years ago

New paper drawing on data from @FrontierCDG Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants I. J. J. Muffels, et al https://t.co/y2i9wu0CRe #cdg #dhdds #visualabstract

JIMD_Editors's tweet photo. New paper drawing on data from @FrontierCDG
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants

I. J. J. Muffels, et al
https://t.co/y2i9wu0CRe
#cdg #dhdds #visualabstract https://t.co/sUOY4WItYn

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Tahni-Ann Wilson @tin_wilson

over 2 years ago

In awe of Melanie speaking about her family's journey with DHDDS and @CureDhdds. Thank you, Melanie for highlighting the hurdles so the world can help. I will remember your story when speaking with other patients nano & ultra rare conditions. #gcchat #genomics #FOG2024 #dhdds

tin_wilson's tweet photo. In awe of Melanie speaking about her family's journey with DHDDS and @CureDhdds. Thank you, Melanie for highlighting the hurdles so the world can help. I will remember your story when speaking with other patients nano & ultra rare conditions. #gcchat #genomics #FOG2024 #dhdds https://t.co/tHaxpSUmdz

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IBC Academia Sinica @IBCSinica

over 2 years ago

🔬Publication - by Dr. Po-Huang Liang @WileyBiomedical This study demonstrated that in #Cinnamomum #kanehirae one #DHDDS-like protein facilitates the production of medium-chain C55 product, and the other assists to produce longer-chain products. https://t.co/sEbCbIbOAO #biochem

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Cure DHDDS @CureDhdds

over 2 years ago

On 21st September 2023, Cure DHDDS hosted its first Virtual Conference, which brought key scientists within DHDDS and NUS1 research together. Read the summary report to find out why we are at a pivotal moment in #DHDDS and #NUS1 research. https://t.co/Cm0HwUIXJu #RareDiseases

CureDhdds's tweet photo. On 21st September 2023, Cure DHDDS hosted its first Virtual Conference, which brought key scientists within DHDDS and NUS1 research together.
Read the summary report to find out why we are at a pivotal moment in #DHDDS and #NUS1 research.
https://t.co/Cm0HwUIXJu
#RareDiseases https://t.co/NU3qn9Hjfp

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Kaveh MD @thehouseofpod

over 2 years ago

Thanks @portugaltheman! #DHDDS #raredisease

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NHS South East Genomic Medicine Service @SEgenomics

almost 3 years ago

This #Rarechromoday, we want to share the story of the Dixon family They've recently discovered that two of their children have a rare #DHDDS gene mutation after having #WholeGenomeSequencing. They have set up @CureDhdds to reach out to other families like them. Please share!

SEgenomics's tweet photo. This #Rarechromoday, we want to share the story of the Dixon family

They've recently discovered that two of their children have a rare #DHDDS gene mutation after having #WholeGenomeSequencing.

They have set up @CureDhdds to reach out to other families like them.

Please share! https://t.co/DYPvKWIJYy

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The Journal of Inherited Metabolic Disease @JIMD_Editors

about 3 years ago

A family are looking to connect with others caring for children/adults with DHDDS genetic variants. Can you help? https://t.co/hFjgpX8Vrf #CDG @worldCDG @UK_CDG @CdgHub @cdgsindrome #DHDDS @RareConnect

JIMD_Editors's tweet photo. A family are looking to connect with others caring for children/adults with DHDDS genetic variants. Can you help?

https://t.co/hFjgpX8Vrf

#CDG @worldCDG @UK_CDG @CdgHub @cdgsindrome #DHDDS @RareConnect https://t.co/hE2TbZrcYw

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Kariona Grabińska @kariona_grabi

almost 5 years ago

@CzerwinsMarcin The real hero of this project is Dr. Serena Galosi, physician-scientist who thanks to #GeneMatcher gathered large group of clinicians and scientists interested in understanding the role of #DHDDS in neurological disorders. We were happy to contribute with functional studies.

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