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 language | English (US) |
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Number of pages | 1 |
Journal | New England Journal of Medicine |
Volume | 282 |
Issue number | 10 |
DOIs | |
State | Published - Mar 5 1970 |
Externally published | Yes |
ASJC Scopus subject areas
- General Medicine