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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Detaylı Bibliyografya
Yayımlandı:Ann Clin Transl Neurol
Asıl Yazarlar: Engelstad, Kristin, Salazar, Rachel, Koenigsberger, Dorcas, Stackowtiz, Erin, Brodlie, Susan, Brandabur, Melanie, De Vivo, Darryl C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2021
Konular:
Brief Communications
Online Erişim: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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