Article
[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Oct 2020
Hu Zhenzhen, Yang Jianbin, Hu Lingwei, Zhao Yunfei, Zhang Chao, Yang Rulai, Huang Xinwen
Abstract excerpt
OBJECTIVE: To investigate the incidence,clinical,biochemical and genetic characteristics of isovaleric acidemia (IVA) in Zhejiang province. METHODS: Between January 2009 and December 2019, a total of 3 510 004 newborns were screened for IVA using tandem mass spectrometry. Patients of IVA were confirmed by urine organic acid and IVD gene detection. IVA patients were given diet and life management, supplemented...
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