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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Carrier detection of sialidosis with partial beta-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes.

Lysosomal and plasma membrane sialidase activities in lymphocytes were studied in four patients with sialidosis with partial beta-galactosidase deficiency, four obligate heterozygotes, and three siblings of a patient. Lysosomal sialidase activity in homozygotes was absent, and that in heterozygotes was significantly decreased to 70% of control level. The results indicate that carriers can be detected by the assay of lysosomal sialidase activity of lymphocytes.[1]

References

  1. Carrier detection of sialidosis with partial beta-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes. Tsuji, S., Yamada, T., Ariga, T., Toyoshima, I., Yamaguchi, H., Kitahara, Y., Miyatake, T., Yamakawa, T. Ann. Neurol. (1984) [Pubmed]
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