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Article

Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2022

Li Yu-Yu, Xu Jia, Sun Xue-Cheng, Li Hong-Yu, Mu Kai

Abstract excerpt

OBJECTIVES: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of the fatty acid oxidative metabolism. This study aimed to investigate the epidemiological characteristics, the spectrum of variation, clinical phenotype, and prognosis of MCADD in Chinese newborns. METHODS: We retrospectively analysed newborn screening (NBS) data in the Zibo area from January 2016 to March 2022...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36068006
DOI: 10.1515/jpem-2022-0394

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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