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Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency

Abstract We explored the benefits of triheptanoin as a treatment for Short Chain Enoyl Co‐A Hydratase (SCEH) deficiency. One child with early onset, severe SCEH Deficiency was treated with triheptanoin, an odd chain oil with anapleurotic properties, for 37 months. Blood and urine chemistry safety me...

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Autori principali: Kristin Engelstad, Rachel Salazar, Dorcas Koenigsberger, Erin Stackowtiz, Susan Brodlie, Melanie Brandabur, Darryl C. De Vivo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley 2021-05-01
Serie:Annals of Clinical and Translational Neurology
Accesso online:https://doi.org/10.1002/acn3.51359
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