ABSTRAC: Fibroblasts from the original sialuria patientare shown to contain high levels of free sialic acid, i.e., anaverage of 87 versus a normal average of 2 nmol/mg ofprotein. Gas liquid ...

The approach was applied to the sialic acid metabolic pathway in human cells, yielding novel mutants with phenotypes related to the inborn metabolic defect sialuria and metastatic tumor cells.