Citrullinemia Latest Advances

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

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

Journal: European journal of case reports in internal medicine

Published: January 19, 2026

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

Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.

Journal: Molecular genetics and metabolism

Published: June 14, 2025

Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.

Journal: Orphanet journal of rare diseases

Published: June 05, 2025

99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 27, 2025

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Journal: Italian journal of pediatrics

Published: April 01, 2025

Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1.

Journal: Frontiers in pediatrics

Published: March 14, 2025

Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).

Journal: Children (Basel, Switzerland)

Published: February 27, 2025

Citrullinemia Latest Advances

Find the Latest Research About Citrullinemia

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

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

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

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

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.

Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.

Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.

Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.

Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.

99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.

99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1.

Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1.

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).