Associated Papers
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
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
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
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: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
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