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  1. 1
    Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature
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  2. 2
    Opportunities and challenges in machine learning-based newborn screening—A systematic literature review
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  3. 3
    Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
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  4. 4
    Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach
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  5. 5
    Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns
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