Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 70 publications

Carglumic acid and mesalazine as potential anti-mycobacterial agents: a spectroscopic study for repurposing drugs against Mycobacterium tuberculosis targeting its essential enzyme ThyX.

Carglumic acid and mesalazine as potential anti-mycobacterial agents: a spectroscopic study for repurposing drugs against Mycobacterium tuberculosis targeting its essential enzyme ThyX.

Journal: Microbiology spectrum
Published: October 13, 2025

Neonatal Presentation of a Case of Carbonic Anhydrase VA Deficiency.

Neonatal Presentation of a Case of Carbonic Anhydrase VA Deficiency.

Journal: Cureus
Published: August 22, 2025

Sequential therapy with carglumic acid in three cases of organic acidemia crisis

Sequential therapy with carglumic acid in three cases of organic acidemia crisis

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: July 22, 2025

Current Treatment Modalities for Urea Cycle Disorders.

Current Treatment Modalities for Urea Cycle Disorders.

Journal: Paediatric drugs
Published: December 16, 2024

Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.

Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.

Journal: Molecular genetics and metabolism reports
Published: November 27, 2024

Trends in drug repurposing: Advancing cardiovascular disease management in geriatric populations.

Trends in drug repurposing: Advancing cardiovascular disease management in geriatric populations.

Journal: Current research in translational medicine
Published: August 27, 2024

Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review.

Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review.

Journal: Molecular genetics and metabolism reports
Published: August 24, 2024

Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.

Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.

Journal: Molecular therapy. Nucleic acids
Published: August 08, 2024

Hyperammonemic encephalopathy requiring hemodialysis in a child with distal renal tubular acidosis.

Hyperammonemic encephalopathy requiring hemodialysis in a child with distal renal tubular acidosis.

Journal: Journal of nephrology
Published: July 16, 2024

Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.

Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.

Journal: Orphanet journal of rare diseases
Published: June 25, 2024

A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency.

A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: May 23, 2024

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.

Journal: Orphanet journal of rare diseases
Published: November 08, 2023
Showing 1-12 of 70

Last Updated: 10/31/2025