Long‐term follow‐up with filter paper samples in patients with propionic acidemia

BACKGROUND: Propionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed during the neonatal period because of severe metabolic acidosis and hyperammonemia. Patients are required to undergo blood and urine analysis...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Stanescu, Sinziana, Belanger‐Quintana, Amaya, Fernández‐Felix, Borja Manuel, Pérez‐Cerdá, Celia, Merinero, Begoña, Ruiz‐Sala, Pedro, Arrieta, Francisco, Martínez‐Pardo, Mercedes
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Research Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7802619/
https://ncbi.nlm.nih.gov/pubmed/33473339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12166
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