Associated Papers
Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications.
Chapman KA et al.
Molecular Genetics and Metabolism, 2025
Prevalence of propionic acidemia in China.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations.
Al-Asmari A et al.
Saudi Journal of Biological Sciences, 2022
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.
Liu Y et al.
Orphanet Journal of Rare Diseases, 2022
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.
Wang HR et al.
Bmc Medical Genetics, 2020
[Clinical, biochemical and molecular findings of propionic acidemia].
Cammarata-Scalisi F et al.
Archivos Argentinos De Pediatria, 2019
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
Al-Hamed MH et al.
Molecular Genetics and Metabolism Reports, 2019
Propionyl-CoA carboxylase - A review.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2017
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
Gupta D et al.
Genetic Testing and Molecular Biomarkers, 2016
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
Chapman KA et al.
Molecular Genetics and Metabolism, 2016
Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.
Arrizza C et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2015
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
Sánchez-Alcudia R et al.
Human Mutation, 2012
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0