Associated Papers
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.
Thimm E et al.
International Journal of Neonatal Screening, 2025
41133704 (PubMed )
Supplement: IJNS-11-00092-s001.zip › IJNS-3599666-supplementary.pdf
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.
Tsai AC et al.
Molecular Genetics and Metabolism Reports, 2022
A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation.
Sag E et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2017
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
Ozgul RK et al.
European Journal of Medical Genetics, 2014
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