Argininosuccinic Aciduria Latest Advances

Find the Latest Research About Argininosuccinic Aciduria

Last Updated: 04/28/2026

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Found 419 publications

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Journal: Scientific reports

Published: December 09, 2025

ACOD1 regulates microglial arginine metabolism and inflammatory responses.

ACOD1 regulates microglial arginine metabolism and inflammatory responses.

Journal: Frontiers in immunology

Published: October 24, 2025

Identification of the potential pathogenicity of a VUS in the ASL gene associated with argininosuccinic aciduria in an Iranian family.

Identification of the potential pathogenicity of a VUS in the ASL gene associated with argininosuccinic aciduria in an Iranian family.

Journal: Molecular biology reports

Published: July 02, 2025

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Journal: Orphanet journal of rare diseases

Published: April 16, 2025

Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders.

Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders.

Journal: Molecular genetics and metabolism

Published: April 02, 2025

Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy.

Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy.

Journal: Metabolic brain disease

Published: March 16, 2025

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Journal: Nutrients

Published: March 06, 2025

The current social status in adult patients with urea cycle disorders in Japan.

The current social status in adult patients with urea cycle disorders in Japan.

Journal: Molecular genetics and metabolism

Published: March 02, 2025

Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).

Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).

Journal: Children (Basel, Switzerland)

Published: February 27, 2025

Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.

Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.

Journal: Journal of inherited metabolic disease

Published: October 24, 2024

Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.

Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.

Journal: Molecular genetics and metabolism reports

Published: September 24, 2024

Exploring RNA therapeutics for urea cycle disorders.

Exploring RNA therapeutics for urea cycle disorders.

Journal: Journal of inherited metabolic disease

Published: July 26, 2024

Showing 1-12 of 419

Last Updated: 04/28/2026