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Lao Y | OMICS International
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Lao Y

PR China

Two Cases of X-linked Liver Glycogenosis in Hunan Province: Transmission from the Undiagnosed Maternal Grandfather

X-linked liver glycogenosis (XLG), also known as glycogen storage disease (GSD) type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. This disease is a result of a deficiency of hepatic phosphorylase kinase (PHK), which plays an important role in glycogen metabolism by activating phosphorylase. We aim at ident... Read More»

Li P, Xu T, Xie X, Zhang Z, Hu Y and Lao Y

Case Report: J Mol Genet Med 2017, 11: 293

DOI: 10.4172/1747-0862.1000293

Abstract Peer-reviewed Full Article Peer-reviewed Article PDF Mobile Full Article

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