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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Kristin Engelstad, Rachel Salazar, Dorcas Koenigsberger, Erin Stackowtiz, Susan Brodlie, Melanie Brandabur, Darryl C. De Vivo
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2021-05-01
Цуврал:	Annals of Clinical and Translational Neurology
Онлайн хандалт:	https://doi.org/10.1002/acn3.51359
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!