New research examines risks, outcomes of seizure activity in patients hospitalized with high ammonia. Key takeaway: early consultation with a neurology team and neuromonitoring can improve outcomes. bit.ly/nucdf-seizur...
#UCDs #seizures #hyperammonemia
#UCDs #seizures #hyperammonemia
December 9, 2024 at 4:16 PM
New research examines risks, outcomes of seizure activity in patients hospitalized with high ammonia. Key takeaway: early consultation with a neurology team and neuromonitoring can improve outcomes. bit.ly/nucdf-seizur...
#UCDs #seizures #hyperammonemia
#UCDs #seizures #hyperammonemia
The National Urea Cycle Disorders Foundation is now on Bluesky! Please follow @nucdf.bsky.social for the latest on our work to advance research, improve care, and raise awareness of this group of rare genetic diseases
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
December 2, 2024 at 6:26 PM
The National Urea Cycle Disorders Foundation is now on Bluesky! Please follow @nucdf.bsky.social for the latest on our work to advance research, improve care, and raise awareness of this group of rare genetic diseases
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
NUCDF dollars at work: Grant funds equipment purchase for research into genetic diagnosis of urea cycle disorders @aimeedudley.bsky.social @pnrigenetics.bsky.social
nucdf.org/research-new...
nucdf.org/research-new...
January 3, 2025 at 3:11 PM
NUCDF dollars at work: Grant funds equipment purchase for research into genetic diagnosis of urea cycle disorders @aimeedudley.bsky.social @pnrigenetics.bsky.social
nucdf.org/research-new...
nucdf.org/research-new...
We will continue to share the importance of this unseen threat.
Delayed diagnosis of hyperammonemia can lead to neurological damage or death.
CHECK AMMONIA
#checkammonia #neurologicaldamage #hyperammonemia #nucdf #metabolicdisorders #geneticdisorders #ureacycledisorders #UCDs
Delayed diagnosis of hyperammonemia can lead to neurological damage or death.
CHECK AMMONIA
#checkammonia #neurologicaldamage #hyperammonemia #nucdf #metabolicdisorders #geneticdisorders #ureacycledisorders #UCDs
March 10, 2025 at 1:52 PM
We will continue to share the importance of this unseen threat.
Delayed diagnosis of hyperammonemia can lead to neurological damage or death.
CHECK AMMONIA
#checkammonia #neurologicaldamage #hyperammonemia #nucdf #metabolicdisorders #geneticdisorders #ureacycledisorders #UCDs
Delayed diagnosis of hyperammonemia can lead to neurological damage or death.
CHECK AMMONIA
#checkammonia #neurologicaldamage #hyperammonemia #nucdf #metabolicdisorders #geneticdisorders #ureacycledisorders #UCDs
Check out our 2024 Year in Review for all our efforts to advance research, improve care and raise awareness that saves lives 76cc07341.flowpaper.com/YearinReview...
#UreaCycleDisorder #UCD #RareDiseases #PatientSupport #MedicalResearch
#UreaCycleDisorder #UCD #RareDiseases #PatientSupport #MedicalResearch
NUCDF Year in Review 2024
76cc07341.flowpaper.com
March 5, 2025 at 3:32 PM
Check out our 2024 Year in Review for all our efforts to advance research, improve care and raise awareness that saves lives 76cc07341.flowpaper.com/YearinReview...
#UreaCycleDisorder #UCD #RareDiseases #PatientSupport #MedicalResearch
#UreaCycleDisorder #UCD #RareDiseases #PatientSupport #MedicalResearch
Did you know?
There are 6,000+ identified rare diseases.
Help us celebrate #rarediseaseday and raise awareness for the 300 million people worldwide living with a rare disease, their families and carers.
#RareDiseaseDay #NUCDF #UCDs #metabolicdisorders #ureacycledisorders
There are 6,000+ identified rare diseases.
Help us celebrate #rarediseaseday and raise awareness for the 300 million people worldwide living with a rare disease, their families and carers.
#RareDiseaseDay #NUCDF #UCDs #metabolicdisorders #ureacycledisorders
February 28, 2025 at 6:04 PM
Did you know?
There are 6,000+ identified rare diseases.
Help us celebrate #rarediseaseday and raise awareness for the 300 million people worldwide living with a rare disease, their families and carers.
#RareDiseaseDay #NUCDF #UCDs #metabolicdisorders #ureacycledisorders
There are 6,000+ identified rare diseases.
Help us celebrate #rarediseaseday and raise awareness for the 300 million people worldwide living with a rare disease, their families and carers.
#RareDiseaseDay #NUCDF #UCDs #metabolicdisorders #ureacycledisorders
We’re revamping our membership opportunities! Now is your chance to be an official member of the National Urea Cycle Disorders Foundation.
You can join us and help our mission.
Find more information – and join – here: nucdf.org/donate/annua...
#nucdf #ureacycledisorders #rarediseases
You can join us and help our mission.
Find more information – and join – here: nucdf.org/donate/annua...
#nucdf #ureacycledisorders #rarediseases
April 7, 2025 at 12:42 PM
We’re revamping our membership opportunities! Now is your chance to be an official member of the National Urea Cycle Disorders Foundation.
You can join us and help our mission.
Find more information – and join – here: nucdf.org/donate/annua...
#nucdf #ureacycledisorders #rarediseases
You can join us and help our mission.
Find more information – and join – here: nucdf.org/donate/annua...
#nucdf #ureacycledisorders #rarediseases
Thrilled to be joining Bluesky! Follow us for news from the National Urea Cycle Disorders Foundation, a nonprofit supporting patients and families affected by urea cycle disorders. We work to advance research, improve care & raise awareness that saves lives.
#NUCDF #UCDs #RareDisease #CheckAmmonia
#NUCDF #UCDs #RareDisease #CheckAmmonia
November 26, 2024 at 8:11 PM
Thrilled to be joining Bluesky! Follow us for news from the National Urea Cycle Disorders Foundation, a nonprofit supporting patients and families affected by urea cycle disorders. We work to advance research, improve care & raise awareness that saves lives.
#NUCDF #UCDs #RareDisease #CheckAmmonia
#NUCDF #UCDs #RareDisease #CheckAmmonia
Amy Magyar's son Mitchell was born with a urea cycle disorder. She sat down for an interview as a part of our caregiver support initiative. Here she shares her family's story: www.youtube.com/watch?v=HxmD...
#caregiver #caregiversupport #caregiverlife #ureacycle #ureacycledisorders
#caregiver #caregiversupport #caregiverlife #ureacycle #ureacycledisorders
Caregiver Support Interview: Amy Magyar
YouTube video by National Urea Cycle Disorders Foundation (NUCDF)
www.youtube.com
February 19, 2025 at 4:51 PM
Amy Magyar's son Mitchell was born with a urea cycle disorder. She sat down for an interview as a part of our caregiver support initiative. Here she shares her family's story: www.youtube.com/watch?v=HxmD...
#caregiver #caregiversupport #caregiverlife #ureacycle #ureacycledisorders
#caregiver #caregiversupport #caregiverlife #ureacycle #ureacycledisorders
Resharing one of our most important stories in 2024: Aimée Dudley @aimeedudley.bsky.social & her team @pnrigenetics.bsky.social are using yeast genetics to help us better understand the impact of variants of uncertain significance #VUS related to urea cycle disorders #UCDs
bit.ly/nucdf-yeast-...
bit.ly/nucdf-yeast-...
December 10, 2024 at 7:44 PM
Resharing one of our most important stories in 2024: Aimée Dudley @aimeedudley.bsky.social & her team @pnrigenetics.bsky.social are using yeast genetics to help us better understand the impact of variants of uncertain significance #VUS related to urea cycle disorders #UCDs
bit.ly/nucdf-yeast-...
bit.ly/nucdf-yeast-...
Zoey was a beautiful, spirited 19 year old with a bright future who lost her life suddenly at age 19 from an undiagnosed urea cycle disorder, OTC deficiency. A simple, inexpensive blood ammonia test could have saved Zoey's life. #UCD #CheckAmmonia
www.youtube.com/watch?v=J5bv...
www.youtube.com/watch?v=J5bv...
Zoeys Story
YouTube video by National Urea Cycle Disorders Foundation (NUCDF)
www.youtube.com
December 13, 2024 at 3:46 PM
Zoey was a beautiful, spirited 19 year old with a bright future who lost her life suddenly at age 19 from an undiagnosed urea cycle disorder, OTC deficiency. A simple, inexpensive blood ammonia test could have saved Zoey's life. #UCD #CheckAmmonia
www.youtube.com/watch?v=J5bv...
www.youtube.com/watch?v=J5bv...
I'm excited to see the growth of #scicomm on Bluesky! Follow me for research news from the National Urea Cycle Disorders Foundation - aiming to improve the lives of people affected by urea cycle disorders, rare genetic metabolic diseases nucdf.org/research-new...
#RareDisease #NUCDF #UCDs
#RareDisease #NUCDF #UCDs
November 21, 2024 at 5:59 PM
I'm excited to see the growth of #scicomm on Bluesky! Follow me for research news from the National Urea Cycle Disorders Foundation - aiming to improve the lives of people affected by urea cycle disorders, rare genetic metabolic diseases nucdf.org/research-new...
#RareDisease #NUCDF #UCDs
#RareDisease #NUCDF #UCDs
Important new research: The more we can learn about the experiences of patients in a high ammonia crisis, the more we can improve their care. bit.ly/nucdf-seizur...
#UCDs #RareDisease #Hyperammonemia
#UCDs #RareDisease #Hyperammonemia
New research examines risks, outcomes of seizure activity in patients hospitalized with high ammonia bit.ly/nucdf-seizur...
#RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social
#RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social
December 2, 2024 at 2:37 PM
Important new research: The more we can learn about the experiences of patients in a high ammonia crisis, the more we can improve their care. bit.ly/nucdf-seizur...
#UCDs #RareDisease #Hyperammonemia
#UCDs #RareDisease #Hyperammonemia
New research: Patients with high ammonia levels #hyperammonemia are at high risk of acute seizures. An analysis of data on 40 patients with inborn errors of metabolism hospitalized w/ high ammonia offered key insights (1/3) bit.ly/nucdf-seizur...
#UCDs #RareDisease #neuro
#UCDs #RareDisease #neuro
November 21, 2024 at 6:17 PM
New research: Patients with high ammonia levels #hyperammonemia are at high risk of acute seizures. An analysis of data on 40 patients with inborn errors of metabolism hospitalized w/ high ammonia offered key insights (1/3) bit.ly/nucdf-seizur...
#UCDs #RareDisease #neuro
#UCDs #RareDisease #neuro
We’re proud to share that PNRI postdoc Shradha Suyal, PhD has received the 2025 Cynthia Le Mons Fellowship from @nucdf.bsky.social! Her #research in the Dudley Lab @aimeedudley.bsky.social is uncovering how genetic changes cause a rare #ureacycledisorder. Thank you NUCDF! 💙Read more: bit.ly/4mC9qQf
August 28, 2025 at 9:56 PM
We’re proud to share that PNRI postdoc Shradha Suyal, PhD has received the 2025 Cynthia Le Mons Fellowship from @nucdf.bsky.social! Her #research in the Dudley Lab @aimeedudley.bsky.social is uncovering how genetic changes cause a rare #ureacycledisorder. Thank you NUCDF! 💙Read more: bit.ly/4mC9qQf
Have you become an official member of NUCDF yet? Your annual membership directly helps us fulfill our mission of supporting those with UCDs and continuing research/education with the ultimate goal of a cure for UCDs. Become a member: nucdf.org/about/donate...
July 21, 2025 at 9:04 AM
Have you become an official member of NUCDF yet? Your annual membership directly helps us fulfill our mission of supporting those with UCDs and continuing research/education with the ultimate goal of a cure for UCDs. Become a member: nucdf.org/about/donate...
The project is funded through the Eugene Washington PCORI Engagement Award Program, an initiative or PCORI, the Patient-Centered Outcomes Research Institute. Read the press release: www.eurekalert.org/news-release...
National UCD Foundation to build network, create roadmap for future research in urea cycle disorders
The National Urea Cycle Disorders Foundation (NUCDF) today announced the launch of a two-year national project to establish the multistakeholder NUCDF Partner Network and develop a roadmap for future ...
www.eurekalert.org
June 18, 2025 at 2:17 PM
The project is funded through the Eugene Washington PCORI Engagement Award Program, an initiative or PCORI, the Patient-Centered Outcomes Research Institute. Read the press release: www.eurekalert.org/news-release...
We are pleased to announce that we are launching a two-year project to establish the NUCDF Partner Network and develop a roadmap for future research in urea cycle disorders #UCDs #PatientEngagement #OTC #CPS1 #ASA #ASS1
nucdf.org/partner-netw...
nucdf.org/partner-netw...
June 18, 2025 at 2:17 PM
We are pleased to announce that we are launching a two-year project to establish the NUCDF Partner Network and develop a roadmap for future research in urea cycle disorders #UCDs #PatientEngagement #OTC #CPS1 #ASA #ASS1
nucdf.org/partner-netw...
nucdf.org/partner-netw...
From day-to-day medical management to the latest research findings, our 2024 conference was packed with actionable information for people affected by urea cycle disorders and for healthcare providers. Check out the recordings: nucdf.org/news-and-eve...
#NUCDF #UCDs #research #familysupport
#NUCDF #UCDs #research #familysupport
2024 NUCDF Conference Recordings and Presentations
Recordings and presentations from the 2024 NUCDF Family Conference.
nucdf.org
March 3, 2025 at 6:47 PM
From day-to-day medical management to the latest research findings, our 2024 conference was packed with actionable information for people affected by urea cycle disorders and for healthcare providers. Check out the recordings: nucdf.org/news-and-eve...
#NUCDF #UCDs #research #familysupport
#NUCDF #UCDs #research #familysupport
Did you know?: 70% of genetic rare diseases start in childhood.
#rarediseaseday #raredisease #rarediseases #facts #nucdf
#rarediseaseday #raredisease #rarediseases #facts #nucdf
February 24, 2025 at 4:54 PM
Did you know?: 70% of genetic rare diseases start in childhood.
#rarediseaseday #raredisease #rarediseases #facts #nucdf
#rarediseaseday #raredisease #rarediseases #facts #nucdf
Their work to add meaning to genetic test results is ongoing as they build on their collaboration with experts at the Urea Cycle Disorders Consortium. We at @nucdf.bsky.social were proud to support this work with a 2024 grant for equipment to aid in analysis of all 8 UCDs bit.ly/nucdf-grant-...
December 10, 2024 at 7:44 PM
Their work to add meaning to genetic test results is ongoing as they build on their collaboration with experts at the Urea Cycle Disorders Consortium. We at @nucdf.bsky.social were proud to support this work with a 2024 grant for equipment to aid in analysis of all 8 UCDs bit.ly/nucdf-grant-...
New research examines risks, outcomes of seizure activity in patients hospitalized with high ammonia bit.ly/nucdf-seizur...
#RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social
#RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social
December 2, 2024 at 2:34 PM
New research examines risks, outcomes of seizure activity in patients hospitalized with high ammonia bit.ly/nucdf-seizur...
#RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social
#RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social
This Thanksgiving, we are grateful for our 20-year research partnership with the Urea Cycle Disorders Consortium, which has brought hope to patients and families affected by urea cycle disorders. We can't wait to see what the next 20 years of research will bring! #UCDs #UCDC #RDCRN #NIH
November 27, 2024 at 8:14 PM