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Article

Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2022

Lin Yiming, Zheng Wenwei, Chen Yanru, Huang Chenggang, Fu Qingliu, Chen Dongmei, Peng Weilin

Abstract excerpt

BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensitivity. This study aimed to evaluate the feasibility of incorporating second-tier genetic screening for MADD. METHODS: A total of 453,390 newborns were screened for inherited metabolic disorders using tandem mass spectrometry from January 2017 to May 2022. A matrix-assisted laser desorption/ionization-time of...

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Identifiers

PMID: 36334790
DOI: 10.1016/j.cca.2022.10.024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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