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Last Updated: 10/31/2025

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Found 417 publications

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

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Journal: Molecular genetics and metabolism
Published: April 04, 2024

Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases.

Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases.

Journal: F1000Research
Published: April 03, 2024
Showing 1-12 of 417

Last Updated: 10/31/2025