Molecular Genetics and Metabolism Reports
 2022
DOI: 10.1016/j.ymgmr.2022.100859
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Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia

Anne Chun-Hui Tsai
1
,
Hsin-Ti Lin
2
,
Maxwell Chou
3
et al.
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