MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

• 主要な著者: Ralph Fingerhut (著者), Pascal Joset (著者), Niels J. Rupp (著者), Martin Girsberger (著者), Susanna H.M. Sluka (著者), Theresia Herget (著者), Silvia Miranda Azzarello-Burri (著者), Anita Rauch (著者), Matthias Baumgartner (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2017-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessively inherited disorder of fatty acid oxidation with a potentially fatal outcome in undiagnosed patients. The introduction of tandem mass spectrometry into newborn screening (NBS) has led to the inclusion of MCADD in NBS i...