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Article

Newborn screening for isovaleric acidemia in Quanzhou, China.

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2020

Lin Yiming, Chen Dongmei, Peng Weilin, Wang Kunyi, Lin Weihua, Zhuang Jianlong, Zheng Zhenzhu, Li Min, Fu Qingliu

Abstract excerpt

BACKGROUND: Isovaleric acidemia (IVA) is a rare autosomal recessive disorder of leucine metabolism caused by a defective isovaleryl-CoA dehydrogenase (IVD) gene. Reports of IVA diagnoses following newborn screening (NBS) in the Chinese population are few. METHODS: We investigated the biochemical, clinical, and molecular profiles of 5 patients with IVA in China. The estimated incidence of IVA in Quanzhou, China is...

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Identifiers

PMID: 32505769
DOI: 10.1016/j.cca.2020.06.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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