Top Tweets for #ENPP1Deficiency
"February 1st is GACI/ARHR2 Awareness Day. Wear red and white and share your posts and videos on social media. Don't forget to tag us @gaciglobal and use the hashtag #gaciarhr2AwarenessDay
https://t.co/557Ee5byvB
#enpp1deficiency #abcc6deficiency #gaci #arhr2 #raredisease"
Inozyme Pharma (@inozyme) to Report Topline Data from Phase 1/2 Trials of INZ-701 in Adults with ABCC6 and ENPP1 Deficiency - please check the link for more https://t.co/b0itaAayC6 #ClinicalTrials #ABCC6Deficiency #ENPP1Deficiency #RareDisease #Pseudoxanthomaelasticum #GACI
"Many thanks to @RareRevolutionM for #tuesdaytakeover! February 29th is global #RareDiseaseDay and today we are raising awareness about GACI (Generalized Arterial Calcification of Infancy).
Follow us @gaciglobal https://t.co/OSS6Adn2t2 #GACI #ENPP1Deficiency #ABCC6Deficiency"
When you have faced so many battles to keep your child alive, you have to appreciate the smaller things in life. The normality for most, is the extraordinary for our families affected by GACI.
#enpp1deficiency #abcc6deficiency #gaci #arhr2 #RareDisease #PatientVoice
Today we celebrate the rainbow babies in our community. And we remember those who never received a rainbow or those still waiting on one.
#enpp1deficiency #abcc6deficiency #gaci #raredisease #circulatinghope #nationalrainbowbabyday
Catherine Nester, BSN, Vice President of Physician and Patient Strategies at Inozyme Pharma, explains the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency @inozyme #checkrare #rarediseases #ENPP1deficiency
https://t.co/J4kTvpFVVf
Catherine Nester, BSN, Vice President of Physician and Patient Strategies at Inozyme Pharma, explains the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency @inozyme #checkrare #rarediseases #ENPP1deficiency
https://t.co/J4kTvpFVVf
Catherine Nester, BSN, Vice President of Physician and Patient Strategies at Inozyme Pharma, explains the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency @inozyme #checkrare #rarediseases #ENPP1deficiency
https://t.co/J4kTvpFVVf
"this is a great realization of the benefit of the AI plus human expert curation approach in the service of identifying more individuals with rare disease" Genomenon's @DrMarkKiel & @inozyme's Catherine Nester on the prevalence #ENPP1Deficiency via @CheckRare๐ฆ๐งฌ#RareDiseaseDay
Mark Kiel, MD, PhD, Chief Science Officer at Genomenon and Catherine Nester, BSN, VP of Physician and Patient Strategies at Inozyme Pharma, discuss the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase 1 #ENPP1 Deficiency. @inozyme #checkrare
https://t.co/fya3FzbvLE
The average length of time from symptom onset to the proper diagnosis of a rare disease is currently 4.8 years. An infant born with GACI does not have 4.8 years to wait for a proper diagnosis.
https://t.co/557Ee5byvB
#enpp1deficiency #abcc6deficiency #gaciarhr2AwarenessDay
Remember to wear your red and white tomorrow! Tag us @gaciglobal and use the hashtag #gaciarhr2awarenessday!
#enpp1deficiency #abcc6deficiency #gaci #arhr2 #raredisease #circulatinghope #arterialcalcification #rickets
Prenatal treatment may be an option to help minimize the progression of GACI.
#enpp1deficiency #abcc6deficiency #gaci #arhr2 #raredisease #circulatinghope #arterialcalcification #rickets
This can pose serious risks to infants with GACI as it increases their risk of high blood pressure, stroke, and heart attack.
#enpp1deficiency #abcc6deficiency #gaci #arhr2 #raredisease #circulatinghope #arterialcalcification #rickets
Clinical trials for enzyme replacement therapy are ongoing in adults diagnosed with ENPP1 Deficiency and ABCC6 Deficiency. We are hopeful that there will be pediatric trials in the future.
#enpp1deficiency #abcc6deficiency #gaci #arhr2 #circulatinghope #arterialcalcification
To connect with a family who has experienced prenatal treatment for GACI or if medical contacts are needed, please email GACI Global at [email protected].
#enpp1deficiency #abcc6deficiency #gaci #raredisease #circulatinghope #arterialcalcification
If you have previously had a child diagnosed with GACI, prenatal genetic testing via CVS or amniocentesis can be beneficial in terms of developing an appropriate treatment plan.
#enpp1deficiency #abcc6deficiency #gaci #raredisease #circulatinghope #arterialcalcification
It is important to know the signs of respiratory distress in an infant with GACI so that you can get them proper treatment as soon as possible.
#enpp1deficiency #abcc6deficiency #gaci #arhr2 #raredisease #circulatinghope #arterialcalcification #rickets #respiratorydistress
50% of babies do not survive GACI. This week is a time for everyone in the community and beyond to come together, remember our much-loved and missed babies, and raise awareness of pregnancy and baby loss.
#enpp1deficiency #abcc6deficiency #gaci #babyloss #waveoflight
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