Isovaleric Acidemia Latest Advances

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Journal: Acta medica Philippina

Published: July 01, 2026

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

Immune dysregulation syndrome associated with inborn errors of metabolism - hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report.

Journal: Frontiers in pediatrics

Published: February 06, 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

Immune Dysregulation in Branched Chain Organic Acidemias.

Journal: Journal of inherited metabolic disease

Published: November 06, 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

Identification of novel compound heterozygous variants in isovaleric acidemia with hyperammonemia: Implications for continuous renal replacement therapy management.

Journal: Genes & diseases

Published: April 27, 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

Isovaleric Acidemia Latest Advances

Find the Latest Research About Isovaleric Acidemia

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

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

Immune dysregulation syndrome associated with inborn errors of metabolism - hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report.

Immune dysregulation syndrome associated with inborn errors of metabolism - hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report.

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.

Immune Dysregulation in Branched Chain Organic Acidemias.

Immune Dysregulation in Branched Chain Organic Acidemias.

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.

Identification of novel compound heterozygous variants in isovaleric acidemia with hyperammonemia: Implications for continuous renal replacement therapy management.

Identification of novel compound heterozygous variants in isovaleric acidemia with hyperammonemia: Implications for continuous renal replacement therapy management.

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

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

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.