Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 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
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
Yang Q et al.
Bmc Medical Genetics, 2020
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
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.
Tummolo A et al.
Journal of Medical Case Reports, 2018
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B et al.
Journal of Inherited Metabolic Disease, 2010
Subacute presentation of propionic acidemia.
Delgado C et al.
Journal of Child Neurology, 2007
New splicing mutations in propionic acidemia.
Desviat LR et al.
Journal of Human Genetics, 2006
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
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
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C et al.
European Journal of Human Genetics : Ejhg, 2000
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
Muro S et al.
Journal of Medical Genetics, 1999
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.
Muro S et al.
Human Mutation, 1999
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M et al.
Human Mutation, 1999
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
Rodríguez-Pombo P et al.
American Journal of Human Genetics, 1998
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0