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Prenatal diagnosis of GM1 gangliosidosis by detection of galactosyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography. |
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| Authors: | T G Warner A D Robertson A K Mock W G Johnson and J S O'Brien |
| Abstract: | Prenatal diagnosis of infantile GM1 gangliosidosis was accomplished by analyzing the galactosyl-oligosaccharides accumulating in amniotic fluid with high-performance liquid chromatography (HPLC) at 14 weeks gestation. The pattern of amniotic oligosaccharides was nearly identical with that in neonatal urine in GM1 gangliosidosis but the concentrations were about one-fiftieth of that in urine, necessitating a highly sensitive assay. |
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