#InbornErrorsofMetabolism
LightNews LightNews
stevielicks.bsky.social
16 minute presentation reviewing a year of Rare Birds Foundation.
#inbornerrorsofmetabolism
#purines
#ADSLDeficiency
Rediscovering ADSLD, Nicole Lytle
YouTube video by Rare Birds Foundation for ADSL Deficiency
youtu.be
October 27, 2025 at 11:59 PM
jimd-editors.bsky.social
The first new paper of 2025 provides a great introduction to cell trafficking which will be the subject of our first special issue of the new year.

Read more here: doi.org/10.1002/jimd...

#celltrafficking #IMD #inbornerrorsofmetabolism
January 6, 2025 at 8:50 AM
simdbsky.bsky.social
Who is headed to Puerto Rico for #SIMD2026 ?

We would like to shout out a big THANK YOU to our supporters for this event and other SIMD events in 2026.

You can access the supporter page here: simd.swoogo.com/2026/support...

#SIMD2026
#inheritedmetabolicdisorders
#inbornerrorsofmetabolism
May 13, 2026 at 6:19 PM
sinaigenetics.bsky.social
🧬Join us on March 7, 2025 for the Symposium on Novel Treatments in Inborn Errors of Metabolism:
💡 Updates on cutting-edge therapies
🎥 Special screening: The Low-Phe Life
🔗 Program & Registration: bit.ly/IEMsymposium
#InbornErrorsofMetabolism #MetabolicDisorders #RareDiseases
January 27, 2025 at 3:15 PM
stevielicks.bsky.social
A conversation with Natalie K Watson, mom to late Rare Birds William and Hamish and author of Bigger Than My Body, a memoir about loving and losing both of her boys to #ADSLDeficiency

#inbornerrorsofmetabolism
#grief
#childloss
Rediscovering ADSLD, Recording 2, A Conversation with Natalie K. Watson
Rediscovering ADSLD, Natalie K WatsonNatalie Watson shares her experience as a Rare Bird mom from Australia in a discussion about loving, losing and honoring the legacy of her late sons, William and ...
www.rarebirdsfoundation.org
October 28, 2025 at 11:13 PM
simdbsky.bsky.social
Our Last SIMD Journal Club of the 2026/2027 academic year is this FRIDAY 5/1/26 at noon ET.

Register here to join us- tinyurl.com/SIMDJournalC...

#organicacidemia

#inbornerrorsofmetabolism

#inheritedmetabolicdisorders
April 30, 2026 at 6:34 PM
simdbsky.bsky.social
Register for the Education Committee's Webinar on #ZellwegerSypectrumDisorders coming up on April 17th at this link:
tinyurl.com/April2026Web...

We look forward to seeing you there in April!
#InbornerrorsofMetabolism
#InheritedMetabolicDisorders
#zellweger
#SIMD2026
March 17, 2026 at 7:26 PM
gimjournal.bsky.social
Don’t miss this free, live webinar on July 30: "Advancing platform genomic therapies for inborn errors of metabolism” presented by @GIMJournal Register today! bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing
July 16, 2025 at 2:51 PM
nucdf.bsky.social
High ammonia can strike at any age and lead to neurological damage or death, but testing for #hyperammonemia can save a life. Know the symptoms and remember to #CheckAmmonia

checkammonia.com

#UCDs #RareDisease #InbornErrorsOfMetabolism
December 5, 2024 at 2:17 PM
simdbsky.bsky.social
Register today for the 5/28/25 SIMD Webinar
Regulatory Perspectives: Clinical Outcome Assessments in Clinical Trials for IEM
speakers-
Maura Ruzhnikov, MD, FACMG, FDA
and
Naomi Knoble, PhD, FDA
Register here: us02web.zoom.us/webinar/regi...

#inbornerrorsofmetabolism
#inheritedmetabolicdisorders
May 16, 2025 at 10:28 PM
jimd-editors.bsky.social
🎧 JIMD Podcast 2025: 50 episodes, 120+ territories, one very niche fandom crossover

Here’s to 2026 and the next 30,000 plays, and remember, just search for "JIMD Podcasts" wherever you like to listen.

#raredisease #podcast #inheritedmetabolicdisease #inbornerrorsofmetabolism #sciencecommunication
December 24, 2025 at 5:01 PM
jimd-editors.bsky.social
If you want to improve outcomes in intoxication type IMDs, you need prompt recognition and excellent emergency management.

#thinkrare #treatrare
Listen here 👉 soundcloud.com/user-1090061...

Spotify: open.spotify.com/episode/17nL...

#Rhabdomyolysis #thinkammonia #InbornErrorsOfMetabolism
May 27, 2025 at 8:11 AM
mymedschool.bsky.social
Summary of metabolic pathways biochemistry
#NEETPG2026 #INICET #NEXTExam #HighYieldReview #Biochemistry #Metabolism #Glycolysis #TCACycle #UreaCycle #HMPShunt #Gluconeogenesis #InbornErrors #Vitamins #EnzymeRegulation #Thiamine #VitaminB12 #InbornErrorsOfMetabolism #G6PD #VonGierke #Galactosemia
Summary of Metabolic Pathways: High-Yield Chart for NEET PG & USMLE
Metabolic pathways form the foundational network of medical biochemistry. Review this integrated master roadmap tracing carbohydrate, lipid, and protein crossroads, highlighted with irreversible regulatory check-points and essential vitamin cofactors ($Latex B_1$, $Latex B_{12}$, Biotin).
mymedschool.org
June 5, 2026 at 11:50 PM
simdbsky.bsky.social
5 days left before the #EarlyBird discount for #SIMD2026 expires!

Act fast... time is running out to save your seat in PuertoRico!

simd.swoogo.com/2026/

#inheritedmetabolicdisorders
#inbornerrorsofmetabolism
#SIMD2026
March 10, 2026 at 6:02 PM
simdbsky.bsky.social
Join us Friday for our February 6th SIMD Fellow Journal Club!

Noon ET

You can register here: tinyurl.com/SIMDJournalC...

#metabolicdisorders

#Inbornerrorsofmetabolism
February 6, 2026 at 2:00 AM
simdbsky.bsky.social
BRAND NEW in 2026- Have you registered yet?
Biochemical Laboratory Testing Concepts and Cases:

Register:
tinyurl.com/SIMDLab2026
2pm - 3pm ET
February 26: Amino acids
March 26: Acylcarnitines
April 30: Organic Acids

#inbornerrorsofmetabolism
#aminoacids
#acylcarnitines
#organicacids
January 5, 2026 at 4:25 PM
simdbsky.bsky.social
COMING UP IN ONE WEEK!
Have you registered yet for the SIMD & @fda.gov Webinar:

Regulatory Use of Biomarkers on December 3 at 2pm ET

Register here- tinyurl.com/SIMDFDADec2025

#FDA
#inbornerrorsofmetabolism
#inheritedmetabolicdisorders
#IEMs
#SIMD
November 26, 2025 at 7:25 PM
simdbsky.bsky.social
ATTENTION!!!!!
The SIMD 2026 ABSTRACT DEADLINE has been EXTENDED to:
December 1, 2025 at midnight Pacific Time
Poster Abstracts, Travel Award Abstracts, Invited Speaker Abstracts, and Satellite Symposium Abstracts.
#SIMD2026
#metabolicdisorders
#inbornerrorsofmetabolism
#inheritedmetabolicdisorders
November 25, 2025 at 3:33 PM
simdbsky.bsky.social
Abstracts are OPEN for #SIMD2026 meeting for our May 2026 Annual Meeting in Puerto Rico! DEADLINE is November 30, 2025 to submit.
More info here:

simd.swoogo.com/2026/

#inbornerrorsofmetabolism
#metabolicdisorders
October 3, 2025 at 12:58 PM
simdbsky.bsky.social
SIMD NAMA 2025 Foundations is in full swing at Lanier Islands Lodge in Georgia.
Check back here tomorrow for some Talent Show and Metabolic Jeopardy photos (happening tonight)!

#SIMDNAMA
#NAMAFoundations2025
#InbornErrorsofMetabolism
#MetabolicDisorders
September 18, 2025 at 2:58 PM
simdbsky.bsky.social
LAST CALL:

SIMD Travel Awards are due TOMORROW (4/30/25) for the ICIEM2025 meeting. Please visit this link to submit your abstract for review:

simd.planion.com/Z?795957474

#inheritedmetabolicdisorders #inbornerrorsofmetabolism #metabolicdisease
April 29, 2025 at 8:14 PM
gimjournal.bsky.social
Don’t miss this free, live webinar on July 30: "Advancing platform genomic therapies for inborn errors of metabolism” presented by @GIMJournal Register today! bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing
July 29, 2025 at 4:46 PM
gimjournal.bsky.social
Join us on Wednesday, July 30th for a free webinar, "Advancing platform genomic therapies for inborn errors of metabolism” with speaker Rebecca Ahrens-Nicklas, MD, PhD. Register now at this link: bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing
July 23, 2025 at 2:09 PM
gimjournal.bsky.social
Join us on Wednesday, July 30th for a free webinar, "Advancing platform genomic therapies for inborn errors of metabolism” with speaker Rebecca Ahrens-Nicklas, MD, PhD. Register now at this link: bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing
July 11, 2025 at 6:12 PM