Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography

Prenatal diagnosis of glycogen storage d

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis

✍ Jianjun Shen; Hui-Ming Liu; Allyn McConkie-Rosell; Yuan-Tsong Chen 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 1 views

Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a milder liver disease without progression. Cur