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Last Updated: 10/31/2025
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Found 268 publications
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
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
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Journal: Journal of inherited metabolic disease
Published: April 12, 2024
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants.
Journal: Molecular genetics and metabolism reports
Published: March 18, 2024
Amyloid-like Aggregation Propensities of Metabolites- Homogentisic Acid, N-Acetyl Aspartic Acid and Isovaleric Acid.
Journal: Chembiochem : a European journal of chemical biology
Published: February 03, 2024
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Journal: International journal of neonatal screening
Published: January 23, 2024
Last Updated: 10/31/2025