Associated Papers
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.
Dai M et al.
Orphanet Journal of Rare Diseases, 2020
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.
Cappuccio G et al.
Jimd Reports, 2017
Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
Vatanavicharn N et al.
World Journal of Pediatrics : Wjp, 2014
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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