Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase <i>(IVD)</i> gene causing severe Isovaleric acidemia with hyperammonemia.

Authors:
Tsai AC; Lin HT; Chou M; Bolen J; Zimmerman C and 2 more

Journal:
Mol Genet Metab Rep

Publication Year: 2022

DOI:
10.1016/j.ymgmr.2022.100859

PMCID:
PMC9248227

PMID:
35782626

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Journal Information

Full Title: Mol Genet Metab Rep

Abbreviation: Mol Genet Metab Rep

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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