Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
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
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
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
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
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X et al.
Molecular Genetics and Metabolism, 2004
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
Yorifuji T et al.
Human Genetics, 2002
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Chloupkova M et al.
Human Mutation, 2002
Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.
Chloupková M et al.
Molecular Genetics and Metabolism, 2000
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M et al.
Human Mutation, 1999
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details