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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Engelstad, Kristin, Salazar, Rachel, Koenigsberger, Dorcas, Stackowtiz, Erin, Brodlie, Susan, Brandabur, Melanie, De Vivo, Darryl C.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Brief Communications
Acesso em linha: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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