Citrullinemia Latest Advances

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.

Journal: Clinical and translational medicine

Published: August 15, 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

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

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.

Journal: Annals of laboratory medicine

Published: November 26, 2024

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers.

Journal: Cureus

Published: November 19, 2024

Markedly Elevated Citrulline in a Neonate: Citrin Deficiency due to a Previously Unreported Solute Carrier Family 25 Member 13 Variant.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 18, 2024

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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.

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).

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.

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers.

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers.

Markedly Elevated Citrulline in a Neonate: Citrin Deficiency due to a Previously Unreported Solute Carrier Family 25 Member 13 Variant.

Markedly Elevated Citrulline in a Neonate: Citrin Deficiency due to a Previously Unreported Solute Carrier Family 25 Member 13 Variant.