METAGEN

he/him/his Metabolic geneticist. Believe in equality.

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@90sfootball Before Wembley he was doing it in a commercial ad for a fruit-punch drink called Frutiño.

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Nauseous

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@acweyand Wtf!!!

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@DrSiyabMD It is also the same issue and sales pitch with the offers for genome wide screening and how it is advertised to both patients and physicians without a genetics background.

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@sgremminger I can say with full confidence that in most countries there are wait times. Drs do plan for things ahead of schedule but disease does not plan or schedule itself. Today you were for a routine visit which might be on schedule. the person on the next room might not be as lucky

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Getting to the final stretch of another great meeting. Congratulations and thanks to the organizers, (hopefully by 2025 we finally get vlcad sorted out) @SIMDtweets #SIMD2024

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Poster #2 by Molly Crenshaw of University of Colorado showing that VLCAD continues to hate our sanity. @SIMDtweets #SIMD2024

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@SIMDtweets 🤯

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As a big fan of NBS this talk by metabolic royalty @BerryS730 is fire 🔥#SIMD2024 @SIMDtweets

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@acweyand Oh; so like a simplified metabolic map? 😉

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@KGolabMLS @acweyand @AShmooklerMD Ha! I heard it from a more experienced faculty many years back and now use it often!

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@smaliske07 @acweyand @WilliamAird4 @sholzberg @Bloodman So the “physician” let the EMR make a clinical decision? Eeek. I would steer away from that provider forever.

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@GCKopinsky @studyrare There are still several answers as this could be either PA or MMA. For MMA due to
Mutase some mutations allow to predict. MMA due to CBL defects might need less restriction. With PA mutation type might be less reliable. I still let the baby tell me their tolerance

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@residencyreview Should also say completed training at 32.

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@residencyreview I am a pediatric subspecialist .Have never missed any of my children functions games or events or time to be out with my wife. I will allow my children to make their own choices.

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@acweyand Pure gold!

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@NeuroMetabolism I call every letter V.U.S.

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@MVGutierrezMD @UHC Wouldn’t that mean that by his oen admission he os not your peer? Thus there was not peer to peer ? As an academics in a highly specialized feel we should hve those discussions with real peers not only in level of degree but also on same subspecialty.

[METAGEN @metabdoc]

@studyrare @JIMD_Editors Remember that there is nomenclature duplication with very long chain fatty acids as is used for the c12-c14 (oxidized in mitochondria) species and then again for c20-c26. (Oxidized in peroxysome)

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@DrJNurse @DocPedro76 @ChildrensColo And clearly I cannot type 🫣

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@DrJNurse @DocPedro76 @ChildrensColo 2/2 interwstingy Victor McKusick who is bu many considered the father of clinical genetics as a formal specialty was an internist.
But fully agree space for everyone and we are a specialty that really behaved as a subspecialty with its own subspecialties.