Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

Xu T


  • Case Report
    Two Cases of X-linked Liver Glycogenosis in Hunan Province: Transmission from the Undiagnosed Maternal Grandfather
    Author(s): Li P, Xu T, Xie X, Zhang Z, Hu Y and Lao YLi P, Xu T, Xie X, Zhang Z, Hu Y and Lao Y

    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 identifying the genetic cause of the GSD running in a family with two affected boys, and hence develop proper management and genetic counseling. The boys presented with typical GSD signs and symptoms. The histology of the liver biopsy from the old brother showed glycogen accumulation in hepatocytes and confirmed his condition of GSD. The younger brother did not have a biopsy. Whole exome sequencing was used to analyze the genetic structure of the proband patients and their parents. Sanger sequencing was used to validate and confirm the identified.. Read More»
    DOI: 10.4172/1747-0862.1000293

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