Rapid Prenatal Diagnosis of Glycogen-Storage Disease Type II by Electron Microscopy of Uncultured Amniotic-Fluid Cells

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Abstract
Glycogen-storage disease Type IIa is a fatal, genetically determined disease of infancy or early childhood that is characterized by deficient activity of acid alpha-glucosidase and by the presence of intracellular vacuoles full of glycogen, which are found in most tissues, including skin and liver. On electron microscopy these specific vacuoles are tightly packed accumulations of glycogen particles surrounded by a single membrane.