A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

• 主要な著者: Robin Chautard (著者), Cécile Laroche-Raynaud (著者), Anne-Sophie Lia (著者), Pauline Chazelas (著者), Paco Derouault (著者), Franck Sturtz (著者), Yasser Baaj (著者), Alice Veauville-Merllié (著者), Cécile Acquaviva (著者), Frédéric Favreau (著者), Pierre-Antoine Faye (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the general population is estimated to be 9/1...