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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2020
Fag:
Research Reports
Online adgang: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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