Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency

Abstract Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a rare mitochondrial defect of β‐oxidation of long‐chain fatty acids. Patients may present with muscle pain, hypotonia, peripheral neuropathy, cardiomyopathy, recurrent rhabdomyolysis and sudden death. Dietary management of L...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
Формат: Өгүүллэг
Хэл сонгох:English
Хэвлэсэн: Wiley 2022-07-01
Цуврал:JIMD Reports
Нөхцлүүд:
Онлайн хандалт:https://doi.org/10.1002/jmd2.12284