Associated Papers
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Kör D et al.
The Turkish Journal of Pediatrics, 2019
Mechanisms of acquired long QT syndrome in patients with propionic academia.
Bodi I et al.
Heart Rhythm, 2016
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
Gallego-Villar L et al.
Journal of Inherited Metabolic Disease, 2013
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
Sánchez-Alcudia R et al.
Molecular Genetics and Metabolism, 2011
New splicing mutations in propionic acidemia.
Desviat LR et al.
Journal of Human Genetics, 2006
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