Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
Prevalence of propionic acidemia in China.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
[Phenotypes and genotypes of 78 patients with propionic acidemia].
Ma X et al.
Zhonghua Yu Fang Yi Xue Za Zhi [chinese Journal of Preventive Medicine], 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia.
Zeng ZG 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
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
Tajima G et al.
International Journal of Neonatal Screening, 2021
Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.
Chen Y et al.
Medicine, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel.
Wang Y et al.
Frontiers in Pediatrics, 2018
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Chiu YH et al.
Biochemical Genetics, 2014
New splicing mutations in propionic acidemia.
Desviat LR et al.
Journal of Human Genetics, 2006
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X et al.
Molecular Genetics and Metabolism, 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
Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
Kim SN et al.
Molecular Genetics and Metabolism, 2002
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
Living-related liver transplantation for neonatal-onset propionic acidemia.
Yorifuji T et al.
The Journal of Pediatrics, 2000
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
Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli.
Kelson TL et al.
Human Molecular Genetics, 1996
A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.
Ohura T et al.
Human Genetics, 1995
Mutations participating in interallelic complementation in propionic acidemia.
Gravel RA et al.
American Journal of Human Genetics, 1994
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0