Associated Papers
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Stanescu S et al.
Amino Acids, 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
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
Stanescu S et al.
Orphanet Journal of Rare Diseases, 2021
Long-term follow-up with filter paper samples in patients with propionic acidemia.
Stanescu S et al.
Jimd Reports, 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
Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.
Grotto S et al.
Clinical Chemistry, 2018
Autism in patients with propionic acidemia.
Witters P et al.
Molecular Genetics and Metabolism, 2016
Select a paper to view details