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

• Autors principals: Ralph Fingerhut (Autor), Pascal Joset (Autor), Niels J. Rupp (Autor), Martin Girsberger (Autor), Susanna H.M. Sluka (Autor), Theresia Herget (Autor), Silvia Miranda Azzarello-Burri (Autor), Anita Rauch (Autor), Matthias Baumgartner (Autor)
• Format: Llibre
• Publicat: MDPI AG, 2017-08-01T00:00:00Z.
• Matèries: article
• Accés en línia: 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...