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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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Principais autores: Kristin Engelstad, Rachel Salazar, Dorcas Koenigsberger, Erin Stackowtiz, Susan Brodlie, Melanie Brandabur, Darryl C. De Vivo
Formato: Artigo
Idioma:Inglês
Publicado: Wiley 2021-05-01
Series:Annals of Clinical and Translational Neurology
Acceso en liña:https://doi.org/10.1002/acn3.51359
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