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Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia

Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which...

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Detalles Bibliográficos
Autores principales: Kido, Jun, Matsumoto, Shirou, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085357/
https://www.ncbi.nlm.nih.gov/pubmed/32231837
http://dx.doi.org/10.1155/2020/4709548