Latest posts tagged with #nkh on Bluesky
🧠 New in JIMD: NKH is not just “high glycine”.
This mouse model shows disrupted one-carbon folate metabolism, serine deficiency, and downstream lipid/myelination effects, pointing to new therapeutic targets beyond glycine lowering.
🔗 doi.org/10.1002/jimd...
#NKH #IMD #Metabolism
“All I want for Christmas is a cure for NKH - more time, more memories with my boy.”
For families facing NKH, Christmas is about moments that matter. Your £25 gift can help fund research and hope for better treatments - and one day, a cure.
mikaerefoundation.org/christmas
#NKH #ChristmasWish
Help us give children like Cara-Grace the gift of more time this Christmas. mikaerefoundation.org/christmas
#AlliWantForChristmas #NKH #NKHAwareness #GlycineEncephalopathy #NonketoticHyperglycinemia #ChristmasWish
For families facing NKH, Christmas isn’t about gifts - it’s about hugs, laughter, and precious moments. NKH is terminal, but your support can help fund research that gives children with NKH more time. Give the gift of more time this Christmas mikaerefoundation.org/christmas #NKH”
Dark white matter is a subcortical MRI marker in seizures and systemic disorders: A narrative review
#OpenAccess in #NeuroMarkers: doi.org/10.1016/j.ne...
#DarkWhiteMatter #Seizures #Epilepsy #BrainMRI #Neuroimaging #MOGAD #NKH #Biomarker #Neurology
🎃 Join the spookiest charity walk! On Sat 25 Oct, take on 10km or 25km through London’s haunted streets. Walk solo or join our 10k team, earn a medal, fizz, hot food & a bobble hat! Fundraise for a children with NKH and a cure. Sign up: mikaerefoundation.org/events/hallo...
#NKH
We’ve sent another £5k to UCL for NKH research - gene therapy, mRNA & more. For a real future for kids with NKH. That’s £77k total so far. Every donation speeds up progress toward a future where NKH doesn’t limit lives. Thank you for being in our corner. 💚 #nkh #teamMikaere #cure4nkh #fundraising
New NKH diagnosis? We know how overwhelming that can be. That’s why we launched nkh.org - a trusted resource for families, reviewed by experts and based on science. We're with you 💛 #NKH #RareDiseaseSupport #PIFTick #NKHSupport #TrustworthyHealthInfo
Happy Birthday Christina! For her birthday, she raised £100+ for NKH research in honour of her son Samuel, who lives with NKH. These funds help push gene therapy forward - because every child with NKH deserves a future. Danke, Christina! 🐝 #NKH
#nonketoticHyperglycinemia #nkh #ifhnkh
#NonketoticHyperglycinemia is considered terminal and life limiting. #NKH Children are often moved to palliative care within days of birth, where 1 in 3 born with NKH are unlikely to see their first birthday.
🫶 Help us to help those with NKH. Please donate:
www.justgiving.com/page/nkhawar...
With #NKH, severity is tricky to predict, and can’t be predicted from birth/initial presentation. Some children don’t reach milestones past that of a newborn. It's heartbreaking.
May 2nd is #NKHAwarenessDay - please donations for a cure:
www.justgiving.com/page/nkhawar...
#glycineencephalopathy
#NKH can cause profound disability and pain. Child with severe NKH are often unable to walk, eat, talk or live independent lives. They have seizures and are tube fed.
May 2nd is #NKHAwarenessDay - we’re asking for donations towards a cure. Every penny helps: justgiving.com/page/nkhawarenessday2025
A child affected by Nonketotic Hyperglycinemia has two mutations in an #NKH gene and the odds of having a child with NKH if both parents are carriers is 25%.
May 2nd is #NKHAwarenessDay - please donate towards an NKH cure:
justgiving.com/page/nkhawarenessday2025
#nonketoticHyperglycinemia
#NKH is rare. In the UK it’s thought there are 50-100 kids living with NKH, despite an incidence ratio of 1 in 76,000 births. The gap is because of the survival rate for NKH is so low.
May 2nd is #NKHAwarenessDay. Please donate:
justgiving.com/page/nkhawarenessday2025
#nonketoticHyperglycinemia
3e algemeen en 3e in de finale op het #NKH in #Mariëmbourg (Zijn maatje en teamgenoot 2x 2e + snelste ronde van de dag)
Samen 5 bekers mee naar huis voor team #DenHartogRacing
Al met al een succesvol raceweekend dus. #JoinTheRace
(Geen18GeenChampagne)
Nonketotic Hyperglycinemia (NKH) is a rare disorder in children, where they can't process glycine. It's is a brutal disorder.
May 2nd is #NKHAwarenessDay - swap your coffee for a donation towards NKH Research:
justgiving.com/page/nkhawarenessday2025
#nkhawareness #nonketoticHyperglycinemia #NKH
Gisteren reed mijn zoon in #Oldenzaal op het #NK #huurkarten #NKH #karting
Iemand maakte daar ongemerkt deze foto van ons en ik vind het zo'n geweldige vader-zoon foto!
(En wat een stoere vent is die knul aan het worden!) #TrotsePapa
1 in 3 kids born with NKH won't see their first birthday. We want to give them a future by funding a gene therapy cure, but can't do it without you! For as little as £5 a month, you can help us give children with NKH a future.
✍️ Join the HIVE today mikaerefoundation.org/the-hive
#nkh
Raising awareness for #NKH Non Ketotic Hyperglycinemia. My daughter died 13 years ago
