Identification of novel compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype
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Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by functional deficiency of propionyl-CoA carboxylase, clinically characterized by life-threatening ketoacidosis, hyperammonemia, and multiorgan dysfunction. Due to its nonspecific... ...
