Associated Papers
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
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 2020
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Pérez B et al.
Molecular Genetics and Metabolism, 2003
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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