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Expanded newborn screening for inborn errors of metabolism: overview and outcomes.
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What the Orphan Drug Act has done lately for children with rare diseases: a 10-year analysis.
Pediatrics. 2012 Mar;129(3):516-21. doi: 10.1542/peds.2011-1798. Epub 2012 Feb 27.
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Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.
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The efficacy of dietary therapy for phenylketonuria.
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