Citrullinemia Latest Advances

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

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

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

Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.

Journal: Molecular genetics and metabolism

Published: February 25, 2025

Dietary Glyceryl Polyethylene Glycol Ricinoleate as an Additive to Improve Intestinal Health in Post-Weaning Piglets.

Journal: Animals : an open access journal from MDPI

Published: February 21, 2025

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.

Journal: Journal of inherited metabolic disease

Published: December 16, 2024

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.

Journal: The Turkish journal of pediatrics

Published: December 08, 2024

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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

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.

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).

Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.

Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.

Dietary Glyceryl Polyethylene Glycol Ricinoleate as an Additive to Improve Intestinal Health in Post-Weaning Piglets.

Dietary Glyceryl Polyethylene Glycol Ricinoleate as an Additive to Improve Intestinal Health in Post-Weaning Piglets.

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.