Associated Papers
A Case of Cardiogenic Shock due to Propionic Acidemia-Associated Cardiomyopathy Successfully Treated with a Combination of Mechanical Circulatory Support and Medical Therapy.
Ishikawa Y et al.
International Heart Journal, 2024
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Stanescu S et al.
Amino Acids, 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
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
Fulgencio-Covián A et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2020
Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
Jiang H et al.
The Journal of Biological Chemistry, 2005
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
Rodríguez-Pombo P et al.
Biochimica Et Biophysica Acta, 2005
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.
Clavero S et al.
Human Genetics, 2004
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Pérez-Cerdá C et al.
Biochimica Et Biophysica Acta, 2003
Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.
Hall PR et al.
The Embo Journal, 2003
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Pérez B et al.
Molecular Genetics and Metabolism, 2003
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Chloupkova M et al.
Human Mutation, 2002
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
Muro S et al.
Molecular Genetics and Metabolism, 2001
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
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