Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

• Główni autorzy: Liuh Ling Goh (Autor), Yingshan Lee (Autor), Ee Shien Tan (Autor), James Soon Chuan Lim (Autor), Chia Wei Lim (Autor), Rinkoo Dalan (Autor)
• Format: Książka
• Wydane: BMC, 2018-04-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein de...