Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency

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 measures, m...

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Publicado en:Ann Clin Transl Neurol
Autores principales: Engelstad, Kristin, Salazar, Rachel, Koenigsberger, Dorcas, Stackowtiz, Erin, Brodlie, Susan, Brandabur, Melanie, De Vivo, Darryl C.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communications
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8108413/
https://ncbi.nlm.nih.gov/pubmed/33931985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51359
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