Associated Papers
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma.
Jiang Z et al.
Frontiers in Neurology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Kör D et al.
The Turkish Journal of Pediatrics, 2019
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Rivera-Barahona A et al.
Molecular Genetics and Metabolism, 2018
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
McCrory NM et al.
The Journal of Pediatrics, 2017
Autism in patients with propionic acidemia.
Witters P et al.
Molecular Genetics and Metabolism, 2016
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
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
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Chloupkova M et al.
Human Mutation, 2002
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M et al.
Human Mutation, 1999
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
Loyer M et al.
Human Molecular Genetics, 1995
Mutations participating in interallelic complementation in propionic acidemia.
Gravel RA et al.
American Journal of Human Genetics, 1994
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
Gravel RA et al.
American Journal of Human Genetics, 1977
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.
Barends M et al.
Molecular Genetics and Metabolism, 0