Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?-Reference-Cited by-同舟云学术

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Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Published:2008-01-30 Issue:1 Volume:3 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Levrat Virginie,Forest Isabelle,Fouilhoux Alain,Acquaviva Cécile,Vianey-Saban Christine,Guffon Nathalie

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/1750-1172-3-2.pdf

Reference7 articles.

1. Coudé FX, Sweetman L, Nyhan WL: Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic aciduria. J Clin Invest. 1979, 64: 1544-1551.

2. Gebhardt B, Vlaho S, Fischer D: N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab. 2003, 79: 303-304. 10.1016/S1096-7192(03)00095-7.

3. Gebhardt B, Dittrich S, Parbel S: N-Carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inher Metab Dis. 2005, 28: 241-244. 10.1007/s10545-005-5260-7.

4. Wajner M, Coelho JC: Neurological dysfunction in methylmalonic aciduria probably related to the inhibitory effect of methylmalonate on brain energy production. J Inher Metab Dis. 1997, 20: 761-768. 10.1023/A:1005359416197.

5. Butterworth RF: Effects of hyperammonaemia on brain function. J Inherit Metab Dis. 1998, 21: 6-20. 10.1023/A:1005393104494.

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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. Organic Acidemias: Clinical Presentation in Neonates;Newborn;2024-01-05

3. Propionic acidemia in mice: Liver acyl-CoA levels and clinical course;Molecular Genetics and Metabolism;2022-01

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. Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies;Journal of Inherited Metabolic Disease;2019-07-09

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