Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1986 | 1 |
1994 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.
J Pediatr. 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0.
J Pediatr. 1994.
PMID: 8071745
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 …
Item in Clipboard
Cite
Cite