Urea Cycle Disorders (UCD) Latest Advances

Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform.

Journal: American journal of human genetics

Published: March 24, 2026

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting.

Journal: Cureus

Published: February 27, 2026

From consanguinity to crisis: a rare cause of neonatal encephalopathy.

Journal: BMJ case reports

Published: February 10, 2026

Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 09, 2026

Neonatal carbamoyl phosphate synthetase I deficiency with severe hyperammonemic coma: the first report from Palestine.

Journal: BMC pediatrics

Published: February 02, 2026

Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity.

Journal: Molecular genetics and metabolism

Published: January 21, 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

Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord.

Journal: Diagnostics (Basel, Switzerland)

Published: January 10, 2026

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity.

Journal: American journal of medical genetics. Part A

Published: December 16, 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

Urea Cycle Disorders (UCD) Latest Advances

Find the Latest Research About Urea Cycle Disorders (UCD)

Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform.

Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform.

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting.

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting.

From consanguinity to crisis: a rare cause of neonatal encephalopathy.

From consanguinity to crisis: a rare cause of neonatal encephalopathy.

Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)

Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)

Neonatal carbamoyl phosphate synthetase I deficiency with severe hyperammonemic coma: the first report from Palestine.

Neonatal carbamoyl phosphate synthetase I deficiency with severe hyperammonemic coma: the first report from Palestine.

Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity.

Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity.

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

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

Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord.

Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord.

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity.

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity.

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.