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Article

Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.

Molecular genetics and metabolism - 1 Jan 2000

Barends M, Pitt J, Morrissy S, Tzanakos N, Boneh A

Abstract excerpt

BACKGROUND: In recent years it has become clear that newborn screening (NBS) programmes using tandem mass spectrometry identify "patients" with "classical" inborn errors of metabolism who are asymptomatic. This observation raises issues regarding medicalization of "non-diseases," potentially unnecessary treatment and unnecessary anxiety to parents. AIMS: This study aims to identify possible markers that may...

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PMID: 25047749
DOI: 10.1016/j.ymgme.2014.07.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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