Retrospective analysis of 221 newborn-screened subjects with MCAD deficiency
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NBS C8 and genotype were significant predictors of having neonatal symptoms.
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Symptomatic neonates were more likely to have at least one copy of 985A > G mutation.
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Neonates with select triggers were more likely to have symptoms.
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The IBEM-IS is a platform to better understand newborn-screened conditions.
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