@IBEMC1

The Inborn Errors of Metabolism Collaborative (IBEMC) collects information after NBS to learn about survival, medical status, and long-term outcome.

ibem-is.org
Joined March 2016
  • Tweets254
  • Following47
  • Followers244
3Media
I really, really want this job.
Buitengebieden
@buitengebieden18 Sep 2024
Penguins getting weighed.. 😊 xitter.cf/buitengebieden/status/…
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New review: an update on the pathological variants in nuclear genes causing mitochondrial complex III deficiency. @kristynakc & @Erikafvb conclude that tissue specificity of complex III deficiency manifestations deserves to be investigated in the future. doi.org/10.1002/jimd.12751
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#RareDiseaseDay is just one month away! 💙💜💚💗 The rarest day of the year is coming up on February 29, Leap Day. Learn how you can get involved to raise awareness for people who live with rare diseases and #ShowYourStripes: bit.ly/2BrULms
Purple background with text reading, "1 Month Until Rare Disease Day" and "How do you plan to Show Your Stripes?" with images of individuals in stripes and wearing Rare Disease Day colors.

ALT Purple background with text reading, "1 Month Until Rare Disease Day" and "How do you plan to Show Your Stripes?" with images of individuals in stripes and wearing Rare Disease Day colors.

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To be considered among the causes of recurrent rhabdomyolysis. Ferredoxin-2 (FDX2)-related mitochondrial disorder. onlinelibrary.wiley.com/doi/…

Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial...

Ferredoxin-2 (FDX2) is an electron transport protein required for iron–sulfur clusters biosynthesis. Pathogenic variants in FDX2 have been associated with autosomal recessive FDX2-related disorder...

onlinelibrary.wiley.com
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The NPKUA Board of Directors and Staff would like to wish everyone a very happy new year! Looking forward to 2024! #NPKUA #pku #PKUstrong #phenylketonuria
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How does racial segregation affect genomics-related knowledge, self-efficacy, perceived importance, and communication for medically underserved patients? Bather et al. explore how structural factors may affect understanding of genetic information bit.ly/3ThIFVv #GIMOpen
Racial segregation and genomics-related knowledge, self-efficacy, perceived importance, and communication among medically underserved patients Jemar R. Bather Melody S. Goodman Kimberly A. Kaphingst Open Access Published: November 18,2023 DOI:https://doi.org/10.1016/j.gimo.2023.100844

ALT Racial segregation and genomics-related knowledge, self-efficacy, perceived importance, and communication among medically underserved patients Jemar R. Bather Melody S. Goodman Kimberly A. Kaphingst Open Access Published: November 18,2023 DOI:https://doi.org/10.1016/j.gimo.2023.100844

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Save the date and join us July 18-21, 2024 for the next NPKUA conference. We are excited to see you in Virginia!
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Exciting news, folks! Today, I swam in Lake Superior. I have achieved my goal of swimming in all three oceans and all four of Canada's great lakes. I feel overjoyed to have achieved this feat. Swimming in Lake Superior was mystical. I felt welcomed by the enchanting water and the environment. As I floated like a wooden plank in the middle of the water, I took a moment to appreciate the serene sight and sound of Lake Superior's water. Some people have asked me if I can post a longer video, so they can use the peaceful sound for meditation. Therefore, I have uploaded a 15-minute version of this video on YouTube. Here is the link: youtu.be/7e9lgFO7zro
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#Friday evening topside #GreatLakes
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AADC is one of the few IMD for which gene therapy has moved from the lab into clinical use. Upstazta was approved for use earlier this year and Roubertier et al discuss the necessity of a framework for a quality-assured application of its use. doi.org/10.1002/jimd.12649 @AADCTRUST
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Join Rare Across America, hosted by Everylife Foundation’s RDLA program to advocate for the MNEA! No experience necessary. Registration closes July 11. Visit everylifefoundation.org/rare… to sign up today! Contact [email protected] with any questions. #NPKUA #RareAcrossAmerica2023
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i woke up this morning. feeling incredibly motivated. i am going to start a hole-digging club at the park. the goal will not just be. to dig more holes. but to dig better holes
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New in the main journal: Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism @SanderHouten, @FredericVaz et al doi.org/10.1002/jimd.12642
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Wilson Disease: Best Practice Aidan Ryan et al jcp.bmj.com/content/early/20…
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The Suggested guidelines for the diagnosis and management of urea cycle disorders is one of our most frequently accessed papers and recently appeared in our ‘Guidelines’ Virtual Issue. doi.org/10.1002/jimd.12100

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000 estimated incidence, UCDs cause hyperammonemia...

onlinelibrary.wiley.com
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So proud of this work and our ongoing commitment at @Region4Genetics to addressing the mental health and trauma-informed care needs of patients and families with genetic diseases. 👇🏼👇🏼
National Coordinating Center for the RGNs@NCCRCG14 Jun 2023
Children and families with #genetics diseases are at higher risk for exposure to trauma. To help support these patients and families, the @Region4Genetics develops resources like the Feb. 2023 webinar: Trauma-informed Care in the Medical Genetics Clinic, bit.ly/MGNTraumaCare
Hosted by: Midwest Genetics Network. Trauma-informed Care in the Medical Genetics Clinic Webinar bit.ly/MGNTraumaCare CME Credits Available Background: A person is smiling and looking forward.

ALT Hosted by: Midwest Genetics Network. Trauma-informed Care in the Medical Genetics Clinic Webinar bit.ly/MGNTraumaCare CME Credits Available Background: A person is smiling and looking forward.

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We continue to host Community Calls every month. We are excited to announce a third call for PKU adults (over 40 please). To register for a session, please email [email protected] #NPKUA #pku #phenylketonuria #raredisease
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Thanks to bill sponsor @NicolePoore12, numerous champions in the Delaware State Senate, and NORD’s @RareAction advocates, Delaware’s Rare Disease Advisory Council bill, #SB55, PASSED the Senate UNANIMOUSLY! Next, the bill heads to the House. Let’s keep the momentum going! #RDAC
Blue and orange background reading "Rare Disease Advisory Council Legislation Passed the Senate Delaware SB 55" with NORD Rare Action Network logo.

ALT Blue and orange background reading "Rare Disease Advisory Council Legislation Passed the Senate Delaware SB 55" with NORD Rare Action Network logo.

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Harris County now has the largest open-air gallery in the world! Check out 30+ murals that celebrate United Nations goals & support anti-child trafficking efforts. Thank you to the artists, Commissioner Ellis, Mayor Turner, Central Houston, Total, Exxon & Street Art for Mankind.
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Throughout #PublicHealthGenetics and Genomics Week 2023, we will highlight public health genetics and genomics programs throughout an individual's life. Learn more at: bit.ly/PHGWCase #PHGW #PublicHealthGenomics
May 15. Public Health Genetics and Genomics. "Public Health Genetics and Genomics in Your Life" Case Study #PHGW#PublicHealthGenetics #PublicHealthGenomics bit.ly/PHGWCase Background: An infographic of the timeline of the case study.

ALT May 15. Public Health Genetics and Genomics. "Public Health Genetics and Genomics in Your Life" Case Study #PHGW#PublicHealthGenetics #PublicHealthGenomics bit.ly/PHGWCase Background: An infographic of the timeline of the case study.

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