Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

• Egile Nagusiak: Xiaomei Luo (Egilea), Jiacheng Hu (Egilea), Xueren Gao (Egilea), Yanjie Fan (Egilea), Yu Sun (Egilea), Xuefan Gu (Egilea), Wenjuan Qiu (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-04-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is mainly characterized in untreated children by hepatomegaly, growth retar...