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Article

Impact of new screening technologies: should we screen and does phenotype influence this decision?

Journal of inherited metabolic disease - 1 Jul 2013

Bonham James Robert

Abstract excerpt

The early detection offered by newborn screening for phenylketonuria clearly demonstrates the benefits for patients with inherited metabolic disorders of well organised screening programmes. It is therefore perhaps surprising that 20 years after the introduction of electrospray MS/MS methods to s...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23508696
DOI: 10.1007/s10545-013-9598-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23508696-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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