🧠🧬 Científicos logran recrear una enfermedad ultrarrara causada por mutaciones en DHDDS usando mini-cerebros creados a partir de células de pacientes. Un paso enorme hacia terapias personalizadas en enfermedades raras. #EnfermedadesRaras #Organoides #Innovación #Neurociencia

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

New Research: Case Report: Recurrent pathogenic mutation c.110G>A in DHDDS gene frontiersin.org/articles/10.… #FrontiersIn #Neuroscience

Abla ben orelciyim benim bile kanım dondu gemi sahnesinde ne demek ya kocam yok öldü ya da kayboldu bilmiyorum falan çok çok ağır oynamış cidden belki de işine geldi öyle oynamak kim bilir dhdds

🤩 @portugaltheman released a cover of Golden (from K-Pop Demon Hunters) on all platforms! 🤩 Frances’ favorite! Part of the proceeds will be donated to Cure DHDDS, supporting the rare disease community. ✨ I love this song because it’s about being who you truly are and shining!

O @portugaltheman lançou um cover de Golden (Guerreiras do K-pop) em todas as plataformas! 🤩👏 A favorita de Frances! Parte da arrecadação será doada para a Cure DHDDS, apoiando a comunidade de doenças raras. ✨ Amo essa música pq é sobre ser quem você realmente é e brilhar!💖

The conserved NUS-1/DHDDS complex links N-glycosylation to lipid and lysosomal homeostasis in C. elegans | bioRxiv biorxiv.org/content/10.64898…

"@OOEC_Oxford" Our friend James Edwards is fundraising for Cure DHDDS. Check out their @JustGiving page and please donate if you can. Thank you! #JustGiving

Our friend James Edwards is fundraising for Cure DHDDS. Check out their @JustGiving page and please donate if you can. Thank you! #JustGiving justgiving.com/page/plodding…

🚨 LIVE NOW: 2025 RARE Auction in support of Frances Changed My Life and @CureDhdds USA 🚨 Bid on once-in-a-lifetime experiences & support life-changing research! ✨ 🎸 See @PortugalTheMan 🏆 GRAMMYs VIP Experience 🎤 Country Music Awards Getaway ✈️ Exclusive trips to RARE locations worldwide 🎁 Signed PTM merchandise & MORE Every bid helps fund critical DHDDS research and supports families affected by this rare disease. 🔗 Start bidding: bit.ly/RAREauction

You might find this interesting. We’re going to develop NMN for an inherited metabolic disease called DHDDS. @PerlaraPBC discovered NMN as a therapeutic option using a yeast model of DHDDS deficiency. open.substack.com/pub/perlar…

W sierpniu 2025 roku w Łodzi odbędzie się Zlot Charytatywny Mustangów „Samurai Mustang 2025 – dla dzieci z DHDDS”. To wyjątkowa akcja, której celem jest wsparcie dzieci cierpiących na ultrarzadką chorobę genetyczną związaną z mutacją w genie DHDDS. tko.pl/284453,2025,05,23,ojc…

We have examined DHDDS; what it is, genetic appearance, different forms of DHDDS, symptoms, congenital disorders glycosylation & lysosomal storage disorders & their symptoms. Today's post re: DHDDS will focus on Mevalonate pathway & importance of the variant located within it

As mentioned in the first post regarding DHDDS, DHDDS sits between Congenital Disorders of Glycosylation (CDGs) and Lysosomal Storage Disorders (LSDs). Today's post will be regarding CDGs, what are they and what are their symptoms. Let's take a look..

Keep NUS1 and DHDDS in the differential for facial myoclonus (perioral/periorbital), apart from ATP13A2 (Kufor Rakeb), ADCY5 and TBC1D24 @shekeeb The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series onlinelibrary.wiley.com/doi/…

2nd post regarding ultra rare genetic condition DHDDS examines the genetic appearance & forms of DHDDS. DHDDS genetic appearance occurs in 3 ways: De Novo (birth), germline mosaicism, & inherited mutation. Two forms DHDDS: Recessive & Dominant Majority of cases appear at birth

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