Novel variants of the PCCB gene in Chinese patients with propionic acidemia

Yang, XX; Li, DY; Tu, CF; He, WB; Meng, LL; Tan, YQ; Lu, GX; Du, J; Zhang, QJ

Du, J; Zhang, QJ (corresponding author), Cent South Univ, Inst Reprod & Stem Cell Engn, Sch Basic Med Sci, Changsha, Peoples R China.

CLINICA CHIMICA ACTA, 2021; 519 (): 18

Abstract

Background and aims: Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by a deficiency of propionyl-CoA carboxylase and muta......

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