Inherited Metabolic Disease Corner @InheritedImdc
To increase awareness about IEOM The account under supervision of Medical Genetics Consultantحساب للتوعية بالامراض الوراثيه وخاصة مايتعلق بالتمثيل الغذائي جدة, المملكة العربية السعودية Joined September 2020-
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Inherited Metabolic Disease Corner retweeted
افخم احتفالية 🤍💚 #الاهلي_الخلود
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Inherited Metabolic Disease Corner retweeted
Inherited Metabolic Disease Corner retweeted
Inherited Metabolic Disease Corner retweeted
What do you do after a "negative" exome? (no, not just send a genome) Check out this paper from Wortmann et al discussing genetic diagnostics, limitations, challenges, and emerging new multiomics techniques doi.org/10.1002/jimd.1… #exome #NGS #multiomics #openaccess
Inherited Metabolic Disease Corner retweeted
Coming down from #SIMD2023 and #ACMGMtg23 and feeling a bit bamboozled by the variety of IMD? Then keep it simple. Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians Saudubray, et al doi.org/10.1002/jimd.1…
Inherited Metabolic Disease Corner retweeted
The newborn screen for a 3 day old girl flags positive for ↑ C3. F/u testing confirms the dx of methylmalonic acidemia (MMA). Which of the following interventions is this patient most likely to require in the first 6 months of life? #GeneChat
Inherited Metabolic Disease Corner retweeted
Our CSO, Kei Kishimoto, & Senior Director, Biology, Petr Ilyinskii, wrote about our nanoparticle platform for #MethylmalonicAcidemia in the fall @OrganicAcidemia newsletter! Learn about the redosing success of our #GeneTherapy treatment in an animal model: bit.ly/30gWkmR
Inherited Metabolic Disease Corner retweeted
For Niemann Pick Awareness month we re-share this article and #visualabstract Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study Marc C. Patterson et al doi.org/10.1002/jimd.1…
Inherited Metabolic Disease Corner retweeted
Today starts Classical #Homocystinuria awareness week! #HCUAwareness2020: #HCUFact 4: Classical homocystinuria, also known as Cystathionine-Beta Synthase affects individuals who are born with defects in both copies of Cystathionine-Beta Synthase. #GoTheExtraMileForHCU
Inherited Metabolic Disease Corner retweeted
Finally our “something blue” comes with one of our earliest #visualabstract Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey Florian B. Lagler et al #pompe #LOPD #raredisease doi.org/10.1002/jmd2.1…
Inherited Metabolic Disease Corner retweeted
This is the urine organic acid analysis (using GCMS) from a 6-year-old female, wheelchair-bound with severe GDD, hypotonia, and encephalopathy. What is your guess?
Nine-month old male, presented with ketoacidosis, ataxia, and progressive extrapyramidal signs. Thebiochemical findings showed elevated branched chain aminoacids, lactic acid and a-ketoglutarate. Your diagnosis is:
Inherited Metabolic Disease Corner retweeted
Come join us for an informative 1 hour webinar on why classical #homocystinuria specific #Cobalamin disorders and #SevereMTHFR are considered all to be homocystinuria. Register here now: zoom.us/meeting/regist…
Inherited Metabolic Disease Corner retweeted
That feeling when you’ve the next podcast edit in the bag which means you’ve got another 3 weeks before the next one is due. Coming next: To WES or not to WES Still to come: MNGIE, Multiple Sulfatase deficiency, Best of JIMD Reports, TANGO2, triheptanoin therapy...
Inherited Metabolic Disease Corner retweeted
Ahead of Friday’s episode, just a quick plug for the new podcast from the JIMD. 6 episodes so far with content for everyone from the curious to the expert. Soundcloud: soundcloud.com/user-109006120 Apple: podcasts.apple.com/gb/podcast/jim… Spotify: open.spotify.com/show/61Aeha0J5… #scicomm @Wiley_Health
Inherited Metabolic Disease Corner retweeted
Mutations in genes causing lysosomal storage diseases can be associated with symptoms in specific organs go.nature.com/2Fk7onc
Inherited Metabolic Disease Corner retweeted
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor ow.ly/Qq8D50BbN6t
Inherited Metabolic Disease Corner retweeted
Finally, our plasma lyso-gb1 assay is up and running and presented at Worldsymposium2020. Another test specialist test with application to Gaucher disease translated to clinical use.
Difference between #methylmalonic_acidemia and #propionic_acidemia #MMA #PPA #OA #organic_acidemia #disease
Fazza @Fazza455697
97 Followers 2K Following
Ruchi Pratihar @ruchi_291190
2 Followers 149 Following
CESAR ALVES @cesaralvesneuro
2K Followers 508 Following Neuroradiologist at @BostonChildrens. Addicted to pediatric neuroradiology and neuroimaging patterns #pedneuroradio #raredisorders #neurometabolismdisorders
Edna @s_edna7
173 Followers 3K Following
Eamon McCarron @eamonpmccarron
140 Followers 365 Following Consultant Adult Inherited Metabolic Disorders. Classical Musician. Wayfarer. Alumnus @LivUniMedicine @liu_universitet
مكتب ابومتع... @shwkt_mr62648
45 Followers 121 Following انجاز موثوق بعون لله https://t.co/uyrWlNP8Lv
Esra Serdaroglu @EsraSerdaroglu
1K Followers 2K Following Child neurologist interested in neuromodulation
DEBASHIS CHATTERJEE @DEB_KASHYAP
7 Followers 70 Following A physician with interest in almost all things under the Sun and a penchant for expressing inner thoughts.
Dr.Mohammad Qusad @DrQusad
335 Followers 2K Following مواليد قطرانسان عادي وبسيط مهمتي انقاذ ارواح الناس واؤمن بان الاماني تتحقق بلدعاء والاستغفار فلسطيني الدم والعروق قطريه for English translate please 😅
Ahmed @AhmedAl58804614
8 Followers 102 Following
~Başha'er Alluhaybi~ @BeshoAziz
260 Followers 1K Following Pediatric& Metabolic Genetics consultant . Saudi Fellowship Certificate in Medical Genetics and Genomics from KFSHRC .
Abdullah H Alfalah | ... @Abdullah_Med
2K Followers 801 Following استشاري الوراثه الطبية وعلم الجينوم🧬 | كل ما أكتبه في الوراثة تلاقونه في "المميّزة" | Pediatrics,Medical Genomics Consultant. Married to the most amazing woman
AAA @Anwar28634
47 Followers 602 Following
Dr Kish Mankad @drmankad
21K Followers 2K Following Real-World Pediatric Neuroradiologist & Head of Radiology @GreatOrmondSt; Neuroradiologist @CHI_Ireland; Chair, Tumor Imaging @SIOPEurope #medicolegal expert
Prof. Mary Laura Lind... @LindLabASU
699 Followers 2K Following Professor of Chemical Engineering at ASU | Co-founder Sequitur Health Corp. | All thoughts are my own.
Paul Smth @PaulSmth6
1 Followers 8 Following
Asociación Princesa ... @mariamimosas
171 Followers 546 Following My daugther was diagnosed a rare disease #HuppkeBrendel syndrome 🧬SLC33A1 🧠#neurodegenerative 🧑🏻🔬Copper metabolism disorder
Beri A. Othman @BeriOthman
14 Followers 193 Following
Fai Alnifayei @5yal2710
0 Followers 155 Following
Moncho Paz @monchopaz
62 Followers 935 Following
Medicalposts_SQU @MedPostsSQU
14K Followers 720 Following MD || Sultan Qaboos University 🇴🇲 || A medical account where mostly child health-related content will be posted || ENJOY!! 💉💊
Jane Lovatt @Jane_Rich26
141 Followers 695 Following Oriflame Brand Partner, Empathy and One2One Support. Wife,cat mum, Nurse. We’re beautiful inside and out
Miriam SR @MiriamS14576699
510 Followers 4K Following CEO ADCUM - Inborn errors of metabolism. Chronic Diseases. Human Rights Activist WHO Commissioner and organization at the UN
Mito Research @MitoResearch
5K Followers 1K Following The latest news from the Wellcome Centre for Mitochondrial Research at Newcastle University. https://t.co/uadf04HQrn…
Division of Molecular... @SuMBHG
2K Followers 2K Following Our division is a research intensive hub based in the Biomedical Research Institute (BMRI) at Stellenbosch University focused on infectious diseases.
شركة المٌنى... @mona25672
136 Followers 760 Following - شركة رائدة في مجال تقديم حلول مبتكرة في التجارة والإدارة والتسويق ، تعمل على تلبية احتياجات العملاء المتنوعة من خلال مجموعة واسعة من الخدمات.
Rayyan Albarakati @rayyan_m_b
198 Followers 863 Following Biochemical Geneticist and General Pediatrician 👦🏻
Fabiano Poswar, MD, P... @errosinatos
101 Followers 310 Following Attending physician in inborn errors of metabolism at @HCPA_. Section editor at @ejhg_journal and editorial board of @BMC_series. Views are my own.
Organic Acidemia Asn @OrganicAcidemia
935 Followers 1K Following The Organic Acidemia Assn, our mission is to support families, share awareness of organic acid disorders, fund research for better treatments & advocate NBS.
Urea Cycle Disorders ... @UCDConsortium
195 Followers 76 Following The UCDC is dedicated to improving the lives of individuals affected by urea cycle disorders. An international collaboration, part of NIH RDCRN @rarediseasesnet
Alana Christie @AlanaAlanat
100 Followers 331 Following Paediatrician with an interest in IMD 🧬 and Diabetes, Mum, runner, hiker, avid reader, part-time island hopper and full-time Potterhead ⚡️. All views my own.
Familias GA @GA1Familia
625 Followers 960 Following Asociación sin ánimo de lucro de familiares, amigos y pacientes con Aciduria glutárica tipo I y 2
Mary @earth2mary
83 Followers 1K Following
Danielle Drachmann @dani_drachmann
681 Followers 3K Following Executive Director at @ketotic_hypo / EHP @healthparl / Patient Representative at @EMA_News
Metabolic & Genetic P... @MetabolicProff
116 Followers 333 Following
Maha Alali I مها �... @Mahawii91
114 Followers 529 Following
CheckRare @CheckRare
3K Followers 2K Following Leading publisher and learning platform focused on rare diseases. Rare Diseases Are Our Focus, Expertise, and Passion.
The Journal of Inheri... @JIMD_Editors
4K Followers 828 Following At a recent Council meeting a decision was made that the SSIEM will no longer interact with X. Please find us on any other Social Media channel.
HCU Network America @HCUAmerica
727 Followers 957 Following The mission of HCU Network America is to help patients with #Homocystinuria and related disorders manage their disease and to find a cure. #HCUNetworkAmerica
Tickets Counter | ع�... @Tickets_Counter
33K Followers 0 Following Unofficial bot for counting sold tickets | بوت غير رسمي يقوم بعد تذاكر المباريات
قلّبي اطمُأ... @heartt_6
1.9M Followers 25 Following - سَتجد هنا كُـل مايُطمنُ قَلبك .♥️| للإعلان خاص
ISNR 2025 @isnr_2025
429 Followers 16 Following Dear Colleagues, We are excited to welcome you all to ISNR 2025, the 26th Annual Conference of the Indian Society of Neuroradiology.
CESAR ALVES @cesaralvesneuro
2K Followers 508 Following Neuroradiologist at @BostonChildrens. Addicted to pediatric neuroradiology and neuroimaging patterns #pedneuroradio #raredisorders #neurometabolismdisorders
1-min ID consult @1min_IDconsult
24K Followers 1K Following Small bite learning✒️, easy to read during a short break☕️, make it simple📖, for all busy residents and fellows🩺 #IDMedEd @TakaMatsuo_ID 🇺🇸
Genetics in Medicine @GIMJournal
16K Followers 3K Following Genetics in Medicine, an official journal of @TheACMG Site use policy: https://t.co/gMGoSv2TJY. Cover image by https://t.co/CqIOOiJw29 user fanjianhua.
Dr Harun Yıldız @drharunyildiz
14K Followers 577 Following #RadiologicalIllustration ✍️ * Let's learn by sharing! * #Radiologist * #Radiology * #MedEd * #MedTwitter * #MedX * 👍❤🙋♂️
PedsCases @PedsCases
13K Followers 1K Following Pediatric educational resource developed by learners for learners. Founded @UAlberta. Podcasts, Videos, Infographics, Cases.
Dr Navarro @DocNavarrow
3K Followers 447 Following Neuroradiologist. MD, PhD, EDiNR. Academic Editor at European Journal of Cancer Care Advisory Editorial Committee, @RevistaRADIOLO2 No medical advice.
Judy Gadde, DO, MBA @JudyGadde
15K Followers 3K Following Associate Professor of Radiology & Medical Ed @NUFeinbergMed & @LurieNeuroRads. Cofounder @RadiologySIG. @uicdme MHPE student. #MedEd https://t.co/NVRZSfdWcx
The American College ... @ACPeds
11K Followers 230 Following Protecting the child, preserving the family and honoring life. #BestForChildren
Pediatric on Squares @OnSquares
29K Followers 102 Following Everyday new squares with new informations in pediatric & pediatric subspecialties 👶🏻👶🏼👶🏽👶🏾👶🏿 [email protected] ✉️
خطة البحث @res_plan2
9K Followers 1K Following نقدم خدمة إعداد #المقترح_البحثي أو #خطة_البحث من مختصينا الذين يمتلكون خبرة واسعة في إعداد المقترح البحثي وخطة البحث التواصل واتساب: https://t.co/AAUWWothCE
Top Biomedical Scienc... @imedverse
90K Followers 9K Following Biomedical Science that Inspires. #medicine #medtwitter #meded #Science #Research #Technology #News
WalidoNeuroPedia @NeuroWalid
7K Followers 220 Following Empowering Neuro Education: Tips, research updates & book recommendations for Neuro residents, students & specialists. Unlocking brain mysteries! 🧠🔔#Neurotip
The Neuroradiologist @theneuroradguy
29K Followers 127 Following A (relatively) young neuroradiologist, fascinated by the brain and brain imaging. Here to share my passion :). #radres #RadED #FOAMrad #Neurorad #radiology
Child Neurology Socie... @ChildNeuroSoc
4K Followers 848 Following Child Neurology Society's official twitter account for members. At the #CNS, every member counts because every child counts. Retweets ≠ endorsement.
صحة جدة @Jeddahhealth
112K Followers 28 Following صحتك أولويتنا، أهلاً بك في حساب فرع @SaudiMOH بمحافظة جدة ،لديك استفسار أو استشارة طبية تفضل: @SaudiMOH937 | تهمك المعلومات الصحية، تفضل: @LiveWellMOH
Jessica Priestley, MD... @MommasaurusJess
540 Followers 549 Following Medical & Biochemical Geneticist. Invested in delivering high-value care to patients and families with rare disease. Momma bear and lover of 🍦🍷🧀
تجمع جدة ال�... @Jeddah2HC
6K Followers 28 Following الحساب الرسمي لتجمع جدة الصحي الثاني || The official account of the Jeddah Second Health Cluster
ern euro_nmd @euro_nmd
2K Followers 686 Following Building bridges and breaking barriers in rare neuromuscular diseases.
pedneurojournal @pedneurojournal
2K Followers 357 Following Pediatric Neurology is a monthly journal that provides essential information to child neurologists and others who care for children with neurological disease.
Lea Alhilali, MD @teachplaygrub
67K Followers 168 Following Neuroradiologist @HRInstitute_AZ. @BarrowNeuro. Striving to make learning neuroimaging and anatomy fun. If I can make you laugh, I can make you learn.
European Journal of P... @EURJPN
320 Followers 644 Following European Journal of Pediatric Neurology, official journal of @EPNSnews. Publishing exciting clinical & experimental research in paediatric neurology
Ayşe Serdaroğlu @serdaroglu_ayse
994 Followers 643 Following Prof. Dr. , Çocuk Nöroloji Uzmanı, Child Neurologist, Gazi Üniversitesi Emekli Öğretim Üyesi
Esra Serdaroglu @EsraSerdaroglu
1K Followers 2K Following Child neurologist interested in neuromodulation
radRounds Radiology N... @radRounds
59K Followers 41K Following Radiology Rounds - dedicated to the sharing of medical imaging cases and connecting radiology
Health Holding Co ش�... @HealthCo_sa
57K Followers 7 Following #شركة_الصحة_القابضة هي شركة وطنية مملوكة للدولة تتولى تقديم الرعاية الصحية الشاملة والمتكاملة من خلال التجمعات الصحية العشرين والتي تخدم جميع مناطق المملكة.
منسوبي وزار... @e_mohcom
240K Followers 802 Following الحساب الرسمي لـ ملتقى منسوبي #وزارة_الصحة السعودية. نغرد بجميع أخبار وقرارات الوزارة. تواصل معنا عبر Whatsapp / https://t.co/yl7tsmsx11…
Neurographics @ASNRographics
7K Followers 5 Following Peer-reviewed, educational journal of the American Society of Neuroradiology (ASNR).
Radiopaedia.org @Radiopaedia
99K Followers 453 Following Free online collaborative radiology resource. Articles, cases, courses, podcast #foamed #foamrad
Canadian NeuroMetabol... @NeuroClub
993 Followers 983 Following Network of Canadian scientists working on central control of metabolism, obesity & related disorders. 10th Annual Meeting in Toronto - May 21, 2025
ESER @ESERadiology
3K Followers 183 Following European Society of Emergency Radiology: A non-profit Society which aims to advance and improve radiological aspects of emergency patient care
Lysosomal&Rare Disord... @LDRTC_USA
309 Followers 130 Following #LDRTC is a #NonprofitOrganization with a vision to provide high quality care for patients and families with #LysosomalStorageDisorders and other #RareDiseases
Pediatric Imaging @pedsimaging
12K Followers 25 Following A pediatric radiology textbook, one case every day. Opinions are my own. #FOAMed #FOAMPed #FOAMRad #MedEd #PedsRad #radiology #radiología #radiologie
DocSplain - AI Doctor... @DocSplain
14K Followers 2K Following 🩺 AI-powered Medical Assistant | 🧠 38 diverse specialties | 💡 Quick & accurate health answers | 👩⚕️👨⚕️ Empowering physicians & patients #AskDocSplain
William T. O'Brien, D... @WmOBrienDO
8K Followers 2K Following Chief, #PediNeuroRad @OrlandoHealth-@APHospital | President @The_ASPNR | Past President @AOCRNews | @WestPoint_USMA & @PCOMeducation |🚑🪖🧠| Posts my own
Learn Medical Genetic... @GeneticsLearn
236 Followers 38 Following Resources for learning about medical genetics. Curated by @Philip_M_Boone and @RMThompsonMD.
ESNR @ESNRad
7K Followers 296 Following European Society of #Neuroradiology #Diagnostic and #Interventional
SPIN | Society of Ped... @spinacademics
6K Followers 192 Following The Society of Pediatric Neuroimaging | A dynamic faculty from the world’s leading children’s hospitals leading the way in education and research
MetabERN @Metab_ERN
2K Followers 377 Following The European Reference Network for Hereditary Metabolic Diseases. A better future for Rare Inherited Metabolic Disease patients. RT ≠ Endorsement. #Together
BIMDG @BIMDG
1K Followers 326 Following Twitter account for British Inherited Metabolic Disease Group. Tweets by Dr James Nurse (@drjnurse) and Dr Rachel Carling (@rachblacklabel).
Jamie Fraser, MD, PhD... @NeuroMetabolism
770 Followers 968 Following 👩🏻⚕️👩🏻🔬studying 🧠 injury in rare 🧬diseases. #Labrune #LCC #MPAN Opinions mine. she/her/Dr. Now active where skies are bluer 🦋….
American Society of P... @The_ASPNR
14K Followers 830 Following The objective and purpose of the ASPNR is to develop, foster, and support the care of pediatric patients undergoing neuroimaging.
Dr Kish Mankad @drmankad
21K Followers 2K Following Real-World Pediatric Neuroradiologist & Head of Radiology @GreatOrmondSt; Neuroradiologist @CHI_Ireland; Chair, Tumor Imaging @SIOPEurope #medicolegal expert
Archer USMLE Review @Usmlegalaxy
23K Followers 346 Following Interactive online #USMLE Step 1, Step 2 and Step 3 reviews, CCS Workshops and Question banks, #FOAMed for #medstudent by expert teaching physiciansTrends for United States
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