Associated Papers
Ventricular Fibrillation and Cardiomyopathy in Propionic Acidemia: A Rare Metabolic Red Flag in Young Adults.
Edgardo AT et al.
Jacc. Case Reports, 2025
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.
Álvarez M et al.
International Journal of Molecular Sciences, 2023
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S et al.
Orphanet Journal of Rare Diseases, 2021
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.
Fulgencio-Covián A et al.
Stem Cell Research, 2020
Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia.
Jiang L et al.
Nature Communications, 2020
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