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
Prevalence of propionic acidemia in China.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2023
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
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 novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing.
Porntaveetus T et al.
Human Genome Variation, 2015
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Chiu YH et al.
Biochemical Genetics, 2014
Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia.
Alberola TM et al.
Journal of Assisted Reproduction and Genetics, 2011
[Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry].
Cifuentes Y et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2008
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X et al.
Molecular Genetics and Metabolism, 2004
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Chloupkova M et al.
Human Mutation, 2002
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
Ravn K et al.
American Journal of Human Genetics, 2000
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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