Urea Cycle Disorders (UCD) Latest Advances

In Vivo Base Editing for Neonatal Inborn Errors of Metabolism: Clinical Progress, N-of-1 Therapy, and the Ethics of Bespoke Genetic Medicine.

Journal: Cureus

Published: August 11, 2026

Hepatocyte-like cell transplantation for urea cycle disorders: Toward a functional detoxifying bioimplant.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: July 19, 2026

A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.

Journal: Biochemical and biophysical research communications

Published: July 16, 2026

Unexplained hyperammonemia in the emergency department: Late-onset ornithine transcarbamylase deficiency in a 75-year-old man.

Journal: The American journal of emergency medicine

Published: June 14, 2026

Fulminant hyperammonemia during intensive chemotherapy in the setting of previously unrecognized partial ornithine transcarbamylase deficiency.

Journal: International journal of hematology

Published: June 02, 2026

Corrected Version: Sodium Benzoate, A Metabolite of Cinnamon and A Food Additive, Improves Cognitive Functions in Mice After Controlled Cortical Impact Injury.

Journal: Journal of clinical & experimental immunology

Published: June 01, 2026

Human cell-based models for urea cycle research: From gene regulation and ureagenesis to disease modeling and therapeutic development.

Journal: Molecular genetics and metabolism

Published: May 15, 2026

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

Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of SLC25A13 Gene Mutations in Hefei, China.

Journal: International journal of neonatal screening

Published: May 08, 2026

The Role of Urea Cycle Functional Studies in Preclinical Research.

Journal: Journal of inherited metabolic disease

Published: May 04, 2026

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

Journal: Gene

Published: May 02, 2026

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

Journal: Frontiers in pediatrics

Published: April 30, 2026

Urea Cycle Disorders (UCD) Latest Advances

Find the Latest Research About Urea Cycle Disorders (UCD)

In Vivo Base Editing for Neonatal Inborn Errors of Metabolism: Clinical Progress, N-of-1 Therapy, and the Ethics of Bespoke Genetic Medicine.

In Vivo Base Editing for Neonatal Inborn Errors of Metabolism: Clinical Progress, N-of-1 Therapy, and the Ethics of Bespoke Genetic Medicine.

Hepatocyte-like cell transplantation for urea cycle disorders: Toward a functional detoxifying bioimplant.

Hepatocyte-like cell transplantation for urea cycle disorders: Toward a functional detoxifying bioimplant.

A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.

A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.

Unexplained hyperammonemia in the emergency department: Late-onset ornithine transcarbamylase deficiency in a 75-year-old man.

Unexplained hyperammonemia in the emergency department: Late-onset ornithine transcarbamylase deficiency in a 75-year-old man.

Fulminant hyperammonemia during intensive chemotherapy in the setting of previously unrecognized partial ornithine transcarbamylase deficiency.

Fulminant hyperammonemia during intensive chemotherapy in the setting of previously unrecognized partial ornithine transcarbamylase deficiency.

Corrected Version: Sodium Benzoate, A Metabolite of Cinnamon and A Food Additive, Improves Cognitive Functions in Mice After Controlled Cortical Impact Injury.

Corrected Version: Sodium Benzoate, A Metabolite of Cinnamon and A Food Additive, Improves Cognitive Functions in Mice After Controlled Cortical Impact Injury.

Human cell-based models for urea cycle research: From gene regulation and ureagenesis to disease modeling and therapeutic development.

Human cell-based models for urea cycle research: From gene regulation and ureagenesis to disease modeling and therapeutic development.

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.

Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of SLC25A13 Gene Mutations in Hefei, China.

Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of SLC25A13 Gene Mutations in Hefei, China.

The Role of Urea Cycle Functional Studies in Preclinical Research.

The Role of Urea Cycle Functional Studies in Preclinical Research.

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

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.