Next generation sequencing as a follow-up test in an expanded newborn screening programme

Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

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Guidelines for diagnostic next-generation sequencing

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

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Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 – From blood spot to screening result

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Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

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