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Article

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

The Journal of pediatrics - 1 Sept 2003

Spiekerkoetter Ute, Sun Bin, Zytkovicz Thomas, Wanders Ronald, Strauss Arnold W, Wendel Udo

Abstract excerpt

OBJECTIVES: To determine whether asymptomatic persons with biochemical evidence of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency identified through expanded newborn screening with tandem mass spectometry have confirmed disease. STUDY DESIGN: We characterized 8 asymptomatic VLCAD-defic...

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Source

Identifiers

PMID: 14517516
DOI: 10.1067/S0022-3476(03)00292-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14517516-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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