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Last Updated: 10/31/2025

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Found 2662 publications

Persistent Hyperammonemia and Cerebral Edema Following Gastrostomy Tube Placement in a Post-bariatric Patient: A Diagnostic Dilemma.

Persistent Hyperammonemia and Cerebral Edema Following Gastrostomy Tube Placement in a Post-bariatric Patient: A Diagnostic Dilemma.

Journal: Cureus
Published: August 24, 2025

Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder

Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: August 20, 2025

Partial Ornithine Transcarbamylase (OTC) Deficiency.

Partial Ornithine Transcarbamylase (OTC) Deficiency.

Journal: Indian journal of pediatrics
Published: August 18, 2025

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.

Journal: Clinical and translational medicine
Published: August 15, 2025

Perioperative Management of a Patient With Arginase 1 Deficiency Undergoing a Liver Transplant: A Case Report.

Perioperative Management of a Patient With Arginase 1 Deficiency Undergoing a Liver Transplant: A Case Report.

Journal: A&A practice
Published: August 12, 2025

A Case of a Heterozygous Female Patient With Ornithine Transcarbamylase (OTC) Deficiency Successfully Treated by Liver Transplantation in Adulthood.

A Case of a Heterozygous Female Patient With Ornithine Transcarbamylase (OTC) Deficiency Successfully Treated by Liver Transplantation in Adulthood.

Journal: Cureus
Published: July 13, 2025

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach.

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach.

Journal: BMJ case reports
Published: July 10, 2025

Bile Duct Paucity in a Case of Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Finding the Missing Piece of the Puzzle!

Bile Duct Paucity in a Case of Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Finding the Missing Piece of the Puzzle!

Journal: Journal of clinical and experimental hepatology
Published: July 05, 2025

Identification of the potential pathogenicity of a VUS in the ASL gene associated with argininosuccinic aciduria in an Iranian family.

Identification of the potential pathogenicity of a VUS in the ASL gene associated with argininosuccinic aciduria in an Iranian family.

Journal: Molecular biology reports
Published: July 02, 2025

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.

Journal: Molecular genetics and metabolism
Published: July 02, 2025

The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study.

The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study.

Journal: Journal of inherited metabolic disease
Published: June 16, 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.

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
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Last Updated: 10/31/2025