Associated Papers
Prevalence of propionic acidemia in China.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2023
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
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
Yang Q et al.
Bmc Medical Genetics, 2020
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
Al-Hamed MH et al.
Molecular Genetics and Metabolism Reports, 2019
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.
AlGhamdi A et al.
Journal of Child Neurology, 2018
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.
Qian J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
Chen Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
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