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

• Principais autores: Szu-Ta Chen (Autor), Huey-Ling Chen (Autor), Yen-Hsuan Ni (Autor), Yin-Hsiu Chien (Autor), Yung-Ming Jeng (Autor), Mei-Hwei Chang (Autor), Wuh-Liang Hwu (Autor)
• Formato: Livro
• Publicado em: Elsevier, 2009-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...