X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males

• Egile Nagusiak: Szu-Ta Chen (Egilea), Huey-Ling Chen (Egilea), Yen-Hsuan Ni (Egilea), Yin-Hsiu Chien (Egilea), Yung-Ming Jeng (Egilea), Mei-Hwei Chang (Egilea), Wuh-Liang Hwu (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2009-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase kinase (PHK). XLG can be divided into two sub...