Citrullinemia Latest Advances

RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I.

Journal: Science translational medicine

Published: May 13, 2026

An amperometric l-citrulline biosensor.

Journal: Bioelectrochemistry (Amsterdam, Netherlands)

Published: April 17, 2026

Sudden Acute Liver Failure in Citrullinemia type 1: An Argument for Earlier Liver Transplantation?

Journal: The Journal of pediatrics

Published: March 31, 2026

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.

Journal: PLoS genetics

Published: February 03, 2026

Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II.

Journal: European journal of case reports in internal medicine

Published: January 19, 2026

Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study.

Journal: Molecular genetics and metabolism

Published: January 15, 2026

Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 18, 2025

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

Journal: Molecular genetics and metabolism

Published: December 12, 2025

A 71-year-old woman with adult-onset type II citrullinemia, initially presenting with normal blood ammonia levels

Journal: Rinsho shinkeigaku = Clinical neurology

Published: December 10, 2025

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

Journal: Scientific reports

Published: December 09, 2025

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.

Journal: Clinical and translational medicine

Published: August 15, 2025

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

Journal: Molecular genetics and metabolism

Published: July 02, 2025

Citrullinemia Latest Advances

Find the Latest Research About Citrullinemia

RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I.

RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I.

An amperometric l-citrulline biosensor.

An amperometric l-citrulline biosensor.

Sudden Acute Liver Failure in Citrullinemia type 1: An Argument for Earlier Liver Transplantation?

Sudden Acute Liver Failure in Citrullinemia type 1: An Argument for Earlier Liver Transplantation?

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.

Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II.

Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II.

Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study.

Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study.

Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes.

Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes.

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

A 71-year-old woman with adult-onset type II citrullinemia, initially presenting with normal blood ammonia levels

A 71-year-old woman with adult-onset type II citrullinemia, initially presenting with normal blood ammonia levels

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.

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.