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

• 主要な著者: Szu-Ta Chen (著者), Huey-Ling Chen (著者), Yen-Hsuan Ni (著者), Yin-Hsiu Chien (著者), Yung-Ming Jeng (著者), Mei-Hwei Chang (著者), Wuh-Liang Hwu (著者)
• フォーマット: 図書
• 出版事項: Elsevier, 2009-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...