N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria-Reference-Cited by-同舟云学术

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N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria

Published:2003-08 Issue:4 Volume:79 Page:303-304
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Gebhardt Boris,Vlaho Stefan,Fischer Doris,Sewell Adrian,Böhles Hansjosef

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference4 articles.

1. Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methymalonic academia;Coude;J. Clin. Invest.,1979

2. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxification;Bachmann;N. Engl. J. Med.,1981

3. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observation and treatment;Bachman;Abv. Exp. Med. Biol.,1982

4. Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarbolic acid cycle, and synergistically acting exitotoxicity;Okun;J. Biol. Chem.,2002

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1. Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study;Drugs in R&D;2024-01-10

2. Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?;Frontiers in Pediatrics;2022-07-25

3. Emergency Treatments;Inborn Metabolic Diseases;2022

4. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial;Orphanet Journal of Rare Diseases;2021-10-11

5. Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature;Orphanet Journal of Rare Diseases;2020-10-09

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