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Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance
BACKGROUND: Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Ile), valine (Val), methionine (Met) and threonine (Thr); proper adherence can prevent and...
Autores principales: | Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernandez-Felix, Borja Manuel, Arrieta, Francisco, Quintero, Victor, Maldonado, Maria Soledad, Alcaide, Patricia, Martínez-Pardo, Mercedes |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130149/ https://www.ncbi.nlm.nih.gov/pubmed/34006296 http://dx.doi.org/10.1186/s13023-021-01865-7 |
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