Neonatal isovaleric acidemia in China: A case report and review of literature

doi:10.12998/wjcc.v9.i2.436

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Jan 16, 2021 (publication date) through Apr 26, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Jan 16, 2021; 9(2): 436-444
Published online Jan 16, 2021. doi: 10.12998/wjcc.v9.i2.436

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Figure 1 Genetic testing of the isovaleryl-CoA dehydrogenase gene. Sequence analysis of the isovaleryl-CoA dehydrogenase gene in the patient revealed the missense mutations, c.1193G>A (p.Arg398Gln) and c.1208A>G (p.Try403Cys).

Citation: Wu F, Fan SJ, Zhou XH. Neonatal isovaleric acidemia in China: A case report and review of literature. World J Clin Cases 2021; 9(2): 436-444
URL: https://www.wjgnet.com/2307-8960/full/v9/i2/436.htm
DOI: https://dx.doi.org/10.12998/wjcc.v9.i2.436