Registration for the 2026 GBA1 meeting in Phoenix is now open - looking forward to this event, running between May 22-23rd (just before World Parkinson's Congress meeting); This is the premier event for #Gaucher & GBA1-associated #Parkinsons research!
www.gba1conference.com/registration/
New article to read from @upcite.bsky.social! Increased intervals in enzyme replacement therapy for stable type 1 #Gaucher disease.
➡️ Supporting personalized spacing strategies that may improve quality of life and reduce healthcare costs.
🔗 doi.org/10.1111/joim.70079
#lysosomal #enzyme
#JETISU #REGION
headlines-world.com/advanced-sea...
#JULES #GAUCHER
aepiot.com/advanced-sea...
MY #VIRTUAL #GIRLFRIEND
aepiot.com/advanced-sea...
allgraph.ro
Splenic artery aneurysm is a rare but dangerous complication of Gaucher disease.
🧬 Prevalence ~2.1% (2x higher than general population)
⚠️ Often linked to lack of ERT/SRT
💡 Routine splenic artery imaging may save lives
New study 👉 doi.org/10.1002/jmd2...
#Gaucher #RareDisease #JIMDReports
📢 New special issue of Calcified Tissue Int.: reviews on #osteomalacia, #XLH, #hypophosphatasia, #Gaucher, #Rett, Aromatase deficiency and more - plus the role of ERN BOND & EuRR-Bone in rare #bone disease care & research.
Read here ▶️ bit.ly/4ma8ge0
👂 Vestibular symptoms in Gaucher disease?
New study shows it’s not just GD3 — GD1 patients may also be affected.
Paper by Onan et al:
“Audiovestibular Findings in Gaucher Disease Types I and III”
doi.org/10.1002/jimd.70046
#Gaucher #RareDisease #Audiology #MetabolicMedicine
La plataforma de nanomedicina #NanoERT, codesenvolupada per @nanomedlabuab.bsky.social, VHIR i el CIPF, pretén millorar les teràpies de reemplaçament enzimàtic per a la malaltia de #Gaucher i altres malalties rares.
🔥Recerca destacada ahir a La Vanguardia! 👇
www.lavanguardia.com/encatala/202...
Glia phagocytose neuronal sphingolipids to infiltrate developing synapses."Disrupting sphingolipid catabolism in glia impairs endolysosomal processing, blocking sphingolipid biosynthesis in neurons & glia disrupts autophagy in glia" #GBA #SMPD1 #Parkinsons #Gaucher www.biorxiv.org/content/10.1...
Reena Sharma, MD, Adult Metabolic Consultant at Salford Royal Hospital and University of Manchester, discusses plans for a phase 3 clinical trial evaluating FLT201 in patients with Gaucher disease.
checkrare.com/plans-for-a-...
#CheckRare #Gaucher #RareLysosomal #RareMetabolic #RareDisease
Je viens d'acheter cette #souris #Logitech ergonomique verticale LIFT Left pour ma patte gauche. Ma première souris ergonomique et pour #gaucher. Adaptation très rapide. Silencieuse en plus !
Sans doute mon meilleur achat tech de ces 365 derniers jours ! (via Amazon Seconde main)
Today, we are presenting the NanoERT project from @ibb-uab.bsky.social and @vhir.bsky.social at 4YFN at MWC 2025. You can find us at the stand of @emprenuab.bsky.social from @uab.cat. Sharing the morning with the Brainmapp project and connecting with companies and investors.
#ERT #Gaucher #Parkinson
Dis bluesky, je cherche des ciseaux cranteurs (à motif ?) qui sont adaptés à un enfant gaucher. Tu sais où je peux trouver ça à prix raisonnable, éventuellement en boutique à #Paris ?
#gaucher
Addressing Feature Importance Biases in #Machine Learning Models for Early Diagnosis of Type 1 #Gaucher Disease - @jclinepi.bsky.social
www.jclinepi.com/article/S089...
🇺🇸🎬🥎 cycle Fair-play Il va y avoir du sport ! - L'Empire de la Perfection de Julien Faraut
#cinema #france #documentaire #sport #tennis #JohnMcEnroe #foundfootage #16mm #GilDeKermadec #icone #gaucher #competition #perfectionnisme #obsession #souffrance
www.forumdesimages.fr/les-programmes/fair-play
GD1 biallelic pathogenic variants cause #Gaucher disease type; lysosomal storage disorder resuls from deficient #glucocerebrosidase. Heterozygous #GBA 1 variants common genetic #parkinson risk factor. When GD1+PD higher PD genetic 'risk' than those w/o...
#jeudiconfession un jour j'aimerais avoir le temps et pouvoir apprendre à jouer de la guitare #gaucher
