Atypical presentation of VLCAD deficiency associated with a novelACADVLsplicing mutation
Author:
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology
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3. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis;Boneh;Mol Genet Metab,2006
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