Citrullinemia Latest Advances

Find the Latest Research About Citrullinemia

Last Updated: 09/26/2026

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Found 655 publications

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.

Journal: Science translational medicine
Published: May 13, 2026

Neonatal Citrullinaemia Type I Complicated by Hyperinsulinaemic Hypoglycaemia: Challenges in Managing Dual Metabolic Pathways.

Neonatal Citrullinaemia Type I Complicated by Hyperinsulinaemic Hypoglycaemia: Challenges in Managing Dual Metabolic Pathways.

Journal: Journal of paediatrics and child health
Published: May 05, 2026

Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study.

Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study.

Journal: Frontiers in pediatrics
Published: April 30, 2026

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.

Journal: International journal of neonatal screening
Published: April 24, 2026

Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.

Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.

Journal: Molecular genetics and metabolism
Published: April 05, 2026

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?

Journal: The Journal of pediatrics
Published: March 31, 2026

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD).

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD).

Journal: JIMD reports
Published: March 09, 2026

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.

Journal: PLoS genetics
Published: February 03, 2026

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

Journal: International journal of neonatal screening
Published: February 02, 2026

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

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.

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

Journal: Molecular genetics and metabolism
Published: January 15, 2026

Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes.

Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes.

Journal: Jornal de pediatria
Published: January 08, 2026
Showing 1-12 of 655

Last Updated: 09/26/2026