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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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Engelstad, Kristin, Salazar, Rachel, Koenigsberger, Dorcas, Stackowtiz, Erin, Brodlie, Susan, Brandabur, Melanie, De Vivo, Darryl C.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2021
Fag:
Brief Communications
Online adgang: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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