White-Cell β-Galactosidase Activity

Harvey S. Singer, Irwin A. Schafer

Research output: Contribution to journalLetter

Abstract

The differential diagnosis between patients with generalized gangliosidosis and several types of genetic mucopolysaccharidoses can be a problem. In both groups of disorders the lysosomal enzyme β-galactosidase has been shown to be deficient in liver, spleen, kidney, brain and skin.1 2 3 The diagnosis of GM1 gangliosidosis is based on clinical phenotype coupled with a normal concentration of derinatan and heparin sulfate in the urine and the absence of β-galactosidase in the liver. Recently Sloan4 reported a case with deficiency of this enzyme in cultured fibroblasts. Since fibroblasts and leukocytes have similar embryologic origins, it seemed a.

Original languageEnglish (US)
Number of pages1
JournalNew England Journal of Medicine
Volume282
Issue number10
DOIs
StatePublished - Mar 5 1970
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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