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Article

Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Jun 2022

Gong Lifei, Yang Nan, Zhao Jinqi, Yang Haihe, Tang Yue, Li Lulu, Kong Yuanyuan

Abstract excerpt

OBJECTIVE: To investigate the clinical characteristics of infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) and related gene mutations in Beijing. METHODS: The acylcarnitine levels in the blood samples of 100 603 neonates in Beijing during August 2014 and March 2022 were measured by tandem mass spectrometry (MS/MS). The suspected SCADD neonates were rechecked by MS/MS, urine gas...

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Identifiers

PMID: 36207829
DOI: 10.3724/zdxbyxb-2022-0214
PMCID: PMC9511486

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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