Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.
作者： Andreas R. Janecke , Susanne Dertinger , Uwe-Peter Ketelsen , Lothar Bereuter , Burkhard Simma
DOI: 10.1016/J.JPEDS.2004.07.024
关键词:
摘要: The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy by analysis GBE1 , the gene encoding branching enzyme. We report two novel truncating mutations, as well first genomic mutational using denaturing high performance liquid chromatography.
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