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

• Asıl Yazarlar: Xiaomei Luo (Yazar), Jiacheng Hu (Yazar), Xueren Gao (Yazar), Yanjie Fan (Yazar), Yu Sun (Yazar), Xuefan Gu (Yazar), Wenjuan Qiu (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-04-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...