Isovaleric Acidemia Latest Advances
Find the Latest Research About Isovaleric Acidemia
Last Updated: 04/28/2026
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Found 272 publications
Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.
Journal: Clinical biochemistry
Published: December 17, 2025
A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous IVD Variants: Clinical Features, Molecular Genetics, and Therapeutic Follow-Up.
Journal: Clinical case reports
Published: November 14, 2025
Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.
Journal: International journal of neonatal screening
Published: September 16, 2025
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.
Journal: Journal of inherited metabolic disease
Published: June 04, 2025
Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: April 05, 2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.
Journal: International journal of neonatal screening
Published: April 05, 2025
Structural Insights into Isovaleryl-Coenzyme A Dehydrogenase: Mechanisms of Substrate Specificity and Implications of Isovaleric Acidemia-Associated Mutations.
Journal: Research (Washington, D.C.)
Published: September 28, 2024
Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses.
Journal: Frontiers in pediatrics
Published: September 11, 2024
Acute Metabolic Decompensation of Isovaleric Acidemia Presenting as Persistent Metabolic Acidosis in a Middle-Aged Man: A Case Report.
Journal: Cureus
Published: August 19, 2024
A rare case of isovaleric acidemia and schizophrenia: a case report.
Journal: BMC psychiatry
Published: July 27, 2024
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.
Journal: Molecular genetics & genomic medicine
Published: June 06, 2024
Last Updated: 04/28/2026