PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report

• Glavni autori: DongYing Tao (Autor), HuiQin Zhang (Autor), Jingmin Yang (Autor), HuanHong Niu (Autor), JingJing Zhang (Autor), Minghua Zeng (Autor), ShengQuan Cheng (Autor)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2022-04-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

BackgroundPyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels, and hyperammonemia. The pyruvate carboxylase (...