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Defects of neuraminidase activities towards sialyloigosaccharides in fibroblasts and leucocytes and enhanced excretion of sialyloligosaccharides in urine were shown in patients with adult type sialidosis with partial deficiency of β-galactosidase and cherry red spot-myoclonus syndrome. No differences in their neuraminidase residual levels and urinary excretion patterns on thin-layer chromatography were found between these two disorders. In mucolipidosis II and III patients, the neuraminidase activities towards sialyloligosaccharides were almost normal in leucocytes, although decreased in fibroblasts. The discrepancy of neuraminidase activities towards 2 →3 and 2 →6 sialyloligosaccharide isomers was not noticed in all cases.
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Accepted: October 7, 1981
Received: September 24, 1981
☆This work was supported by a grant from the Ministry of Education, Science and Culture of Japan.
© 1982 Published by Elsevier Inc.