Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed pati...

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Bibliographic Details
Main Authors: Steven F. Dobrowolski (Author), Lina Ghaloul-Gonzalez (Author), Jerry Vockley (Author)
Format: Book
Published: MDPI AG, 2017-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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