Isovaleric Acidemia Latest Advances

N-carbamylglutamate in the treatment of neonatal organic acidemia crisis: a report of five cases

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: May 14, 2026

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

Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels.

Journal: JIMD reports

Published: October 21, 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

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

Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 05, 2025

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

Journal: Scientific reports

Published: January 24, 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

Isovaleric Acidemia Latest Advances

Find the Latest Research About Isovaleric Acidemia

N-carbamylglutamate in the treatment of neonatal organic acidemia crisis: a report of five cases

N-carbamylglutamate in the treatment of neonatal organic acidemia crisis: a report of five cases

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous IVD Variants: Clinical Features, Molecular Genetics, and Therapeutic Follow-Up.

A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous IVD Variants: Clinical Features, Molecular Genetics, and Therapeutic Follow-Up.

Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels.

Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels.

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.

Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.

Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.

Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis.

Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis.

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

Structural Insights into Isovaleryl-Coenzyme A Dehydrogenase: Mechanisms of Substrate Specificity and Implications of Isovaleric Acidemia-Associated Mutations.

Structural Insights into Isovaleryl-Coenzyme A Dehydrogenase: Mechanisms of Substrate Specificity and Implications of Isovaleric Acidemia-Associated Mutations.

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses.

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses.

Acute Metabolic Decompensation of Isovaleric Acidemia Presenting as Persistent Metabolic Acidosis in a Middle-Aged Man: A Case Report.

Acute Metabolic Decompensation of Isovaleric Acidemia Presenting as Persistent Metabolic Acidosis in a Middle-Aged Man: A Case Report.