The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1, the gene encoding glycogen branching enzyme. We report two novel truncating ...The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1, the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomicmutational analysis of GBE1 using denaturing high performance liquid chromatography.展开更多
文摘The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1, the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomicmutational analysis of GBE1 using denaturing high performance liquid chromatography.
