(The artist who made that statue, Carlo Brioschi, died in 1895.)
https://doi.org/10.1002/jmd2.12458
https://doi.org/10.1002/jmd2.12458
New data show the median delay is over 2 years. Most kids already show significant neuro decline before diagnosis.
doi.org/10.1002/jimd.70049
#MLD #RareDisease #JIMD #MetabolicMedicine
New data show the median delay is over 2 years. Most kids already show significant neuro decline before diagnosis.
doi.org/10.1002/jimd.70049
#MLD #RareDisease #JIMD #MetabolicMedicine
www.buzzfeednews.com/article/jimd...
www.buzzfeednews.com/article/jimd...
bsky.app/profile/jimd...
bsky.app/profile/jimd...
soundcloud.com/user-1090061...
soundcloud.com/user-1090061...
Can blood cells help diagnose and monitor FSASD?
This NIH-led study shows free sialic acid is 22–49x higher in leukocytes from patients with FSASD vs controls and other LSDs. A potential minimally invasive biomarker for diagnosis and trials.
doi.org/10.1002/jmd2...
#FSASD
Can blood cells help diagnose and monitor FSASD?
This NIH-led study shows free sialic acid is 22–49x higher in leukocytes from patients with FSASD vs controls and other LSDs. A potential minimally invasive biomarker for diagnosis and trials.
doi.org/10.1002/jmd2...
#FSASD
BREAKING: Tesla is accused of scamming $43M from Canada’s EV Rebate Program
They first sent a statement about the South Shore raid—an entirely different incident—and when I asked again they sent this deeply unserious response.
Jessica Gold discusses executive function in MSUD and its impact on transition.
Spotify: open.spotify.com/episode/5Z9T...
Or search for "JIMD Podcasts"
Jessica Gold discusses executive function in MSUD and its impact on transition.
Spotify: open.spotify.com/episode/5Z9T...
Or search for "JIMD Podcasts"
Let’s see all those beautiful hands raised, high! 🤚✨
🧬 Tyrosine Hydroxylase Deficiency (THD)
Led by the iNTD network, it sets out how to:
Diagnose via CSF + genetics
Treat with L-dopa/DCI
Plan multidisciplinary care
📘 Consensus from 28 experts & patient reps.
👉 doi.org/10.1002/jimd...
#THD #RareDisease #MetabolicMedicine
🧬 Tyrosine Hydroxylase Deficiency (THD)
Led by the iNTD network, it sets out how to:
Diagnose via CSF + genetics
Treat with L-dopa/DCI
Plan multidisciplinary care
📘 Consensus from 28 experts & patient reps.
👉 doi.org/10.1002/jimd...
#THD #RareDisease #MetabolicMedicine
doi.org/10.1002/jimd...
doi.org/10.1002/jimd...