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Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.
Harzer K, Cantz M, Sewell AC, Dhareshwar SS, Roggendorf W, Heckl RW, Schofer O, Thumler R, Peiffer J, Schlote W. Harzer K, et al. Hum Genet. 1986 Nov;74(3):209-14. doi: 10.1007/BF00282535. Hum Genet. 1986. PMID: 3096875
The small residual sialidase activity, which in the older patient had a normal KM value, is considered responsible for the late onset and slow clinical course of the disease. It is concluded that in adult sialidosis the extraneural storage process can be difficult to demon …
The small residual sialidase activity, which in the older patient had a normal KM value, is considered responsible for the late onset and sl …