Top Tweets for #SIMD19
@SIMDtweets Thanks for a fantastic #SIMD19 meeting! This event always heightens my awareness of metabolism...I’m tired 😴, hungover 😵, and bloated 🤢...can’t wait for #SIMD20! See you in Austin!
We complete #SIMD19 with gratitude to all who shared their expertise. What a wonderful gathering! Make sure to save the date for #SIMD20 in Austin TX, April 26-29, 2020. (you’re gonna love the music 🎶) @SIMDtweets, signing off!!🌅
Fabulous final presentation at #SIMD19 on hopes for gene therapy for eye manifestations in mitochondrial disorders. 👀 as 🎯
Dr. Brian Brooks in IEM/ 👁: Vision-limiting event in MMA is optic atrophy but mito-mediated retinopathy is also present. Can get sudden central vision loss that looks LHON-like, responds some to antioxidants? CblC developmental plus degenerative, some response to vit Rx #SIMD19
IEM and the eye 👁. LCHADD retinopathy expertise from Dr Mark Pennesi. Using marvelous tools to elucidate, the RPE dies first, then photoreceptors. Encouraging, RPE excellent target for gene therapy? FYI this is other OCT! #SIMD19
Gepke Visser on the #newbornscreening experience for VLCAD in the Netherlands. NBS finds many more mild pts, eliminated death from hypoglycemia. Not at age for rhabdo yet. Defining a “fingerprint” for severity, looking for more on this...#SIMD19
Dr Melanie Gillingham on utility of acylcarnitines in VLCAD C14:1 varies with state. Increase generally with illness, don’t correlate with severity. Prob not very useful for monitoring in uncontrolled setting. Great review!! And great studies. #SIMD19
Curtis Coughlin on the legend of carnitine administration in FAODs. Bad or good? @CoughlinIi #SIMD19. Limited evidence either way. Consider burden of treatment . . .
Final morning of #SIMD19: VLCAD management begins with detailed review of @GMDIorg guidelines by Guidelines Chair Dr. Sandy VanCalcar. Can go to https://t.co/sK9hIKIL3b to see.
Shapira and Founders Award winners Carlos Ferriera and Arianna Anzmann #SIMD19
Award 🥇 winning presentation re metabolomic changes evidenced in MMA and PA - dysregulation of serine Metabolism. Well done, Arianna Anzmann! #SIMD19
Dr Gerry Berry modestly acknowledges his excellent work in leading the #SIMD19 program committee. Thank you sir!! And thanks to the Program Committee for an outstanding meeting.
Japanese SIMD Young Investigator 🥇 Takanobu Otomo presents study of LSD pathomechanisms using CRISPR/Cas9 editing. #SIMD19
#SIMD19 Quality Improvement: Better patient outcomes because you showed up here today. 🙌🏼
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