Selective neonatal screening is the testing of an individual known to be at increased risk for a _______________ disorder.
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Q54: Untreated _ can cause neurologic abnormalities, seizures,
Q55: Neonates with a metabolic disorder generally show
Q56: The genetic defect in phenylalanine hydroxylase leads
Q57: The detection of inborn errors of metabolism
Q58: In an autosomal recessive disorder, carrier parents
Q60: Additional amounts of a cofactor can provide
Q61: Discuss the epidemiology of amino acidopathies.
Q62: Organic acidemias are a subset of _
Q63: Describe how clinicians screen for multiple metabolic
Q64: Fatty acids in the mitochondria are converted
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