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 hyperam...

por Tsai, Anne Chun-Hui, Lin, Hsin-Ti, Chou, Maxwell, Bolen, Jessica, Zimmerman, Chelsea, DeMarzo, Danielle, Enchautegui-Colon, Yazmin
Publicado 2022