Associated Papers
Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit.
Tao T et al.
Orphanet Journal of Rare Diseases, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
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
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
Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.
Tian Y et al.
Bmc Pregnancy and Childbirth, 2020
Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.
Dai M et al.
Orphanet Journal of Rare Diseases, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
Yang Q et al.
Bmc Medical Genetics, 2020
Seizures and Cerebellar Calcification in a Child with Autoimmune Polyendocrine Syndrome 3A.
Peterson RR et al.
Indian Pediatrics, 2018
Propionyl-CoA carboxylase - A review.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2017
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.
Cappuccio G et al.
Jimd Reports, 2017
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
Gupta D et al.
Genetic Testing and Molecular Biomarkers, 2016
Functional characterization of PCCA mutations causing propionic acidemia.
Clavero S et al.
Biochimica Et Biophysica Acta, 2002
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0