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Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.
Zhuang DY, Ding SX, Wang F, Yang XC, Pan XL, Bao YW, Zhou LM, Li HB. Zhuang DY, et al. Front Genet. 2022 Jan 28;12:791869. doi: 10.3389/fgene.2021.791869. eCollection 2021. Front Genet. 2022. PMID: 35154245 Free PMC article.
Here, tandem mass spectrometry (MS/MS) was applied to screen 302,993 neonates for inherited metabolic diseases (IMD) in Ningbo of China from 2017 to 2020. The results suggest that 198 newborns (0.7) were initially screened positive for IBDHD with C4-Carnitine, and 2 …
Here, tandem mass spectrometry (MS/MS) was applied to screen 302,993 neonates for inherited metabolic diseases (IMD) in Ningbo of China from …