sialidosis type I — the milder form of sialidosis, lacking dysmorphic features and having onset usually in the second decade; it is characterized by myoclonus, ocular cherry red spot with progressive loss of visual acuity, and storage of sialyloligosaccharides … Medical dictionary
Sialidosis — Classification and external resources Sialic acid ICD 10 E77.1 OMIM … Wikipedia
Mucolipidosis type IV — Classification and external resources ICD 10 E75.1 OMIM 252650 DiseasesDB … Wikipedia
NEU1 — Sialidase 1 (lysosomal sialidase) Crystallographic structure of influenza A N9 neuraminidase and its complex with the inhibitor 2 deoxy 2,3 dehydro N acetyl neuraminic acid.[1] … Wikipedia
List of diseases (S) — A list of diseases in the English wikipedia.DiseasesTOC NOTOC Sa Sc Se Sh Si Sj Sn So Sp Sq Ss St Su Sw Sy aSaa Sak Sal Sar Sat Say aa Sal* Saal Bulas syndrome * Saal Greenstein syndrome * Sabinas brittle hair syndrome * Saccharopinuria * Sackey… … Wikipedia
Coarse facial features — refer to a similar change in facial features in the advanced stage of certain conditions like Cretinism, Mucopolysaccharidoses etc, where affected individuals look remarkably similar due to the coarsening of their facial features. These typical… … Wikipedia
galactosialidosis — ga·lac·to·si·al·i·do·sis (gə lak″to si al″ĭ doґsis) an autosomal recessive lysosomal storage disease caused by mutations in the CTSA gene (locus: 20q13.1), which encodes cathepsin A, resulting in deficiency of both… … Medical dictionary
Progressive myoclonic epilepsy — Classification and external resources ICD 9 333.2 MeSH D020191 Progressive myo … Wikipedia
Mucolipidosis — Classification and external resources ICD 10 E77.0 E77.1 ICD 9 … Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
