Associated Papers
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US et al.
Molecular Therapy. Nucleic Acids, 2024
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.
Cappuccio G et al.
Jimd Reports, 2017
Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.
Guenzel AJ et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2013
Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.
Lianou D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Functional characterization of PCCA mutations causing propionic acidemia.
Clavero S et al.
Biochimica Et Biophysica Acta, 2002
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details