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

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...

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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.
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3rd Floor Main Library

予約・返却請求 3rd Floor Main Library
請求記号: A1234.567
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