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

• Главные авторы: Ralph Fingerhut (Автор), Pascal Joset (Автор), Niels J. Rupp (Автор), Martin Girsberger (Автор), Susanna H.M. Sluka (Автор), Theresia Herget (Автор), Silvia Miranda Azzarello-Burri (Автор), Anita Rauch (Автор), Matthias Baumgartner (Автор)
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• Опубликовано: MDPI AG, 2017-08-01T00:00:00Z.
• Предметы: article
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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...