- sialidosis
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sialidosis
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Sialidosis — Classification and external resources Sialic acid ICD 10 E77.1 OMIM … Wikipedia
sialidosis — una enfermedad de acumulación de glucoproteínas por deficiencia en una glucoproteína sialidasa, alfasialidasa o alfaneuraminidasa (fibroblastos), lo que ocasiona una excreción urinaria de oligosacáridos ricos en siálico. Existen varios tipos *… … Diccionario médico
sialidosis dismórfica — Eng. Dysmorphic sialidosis Ver síndrome de Spranger … Diccionario de oftalmología
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 type II — the more severe form of sialidosis, having the characteristics of the milder form and additionally characterized by somatic abnormalities, coarse facies, and dysostosis multiplex. It occurs as several variants of increasing severity with earlier… … Medical dictionary
Sialidosis — A form of mucolipidosis characterized by deficiency of acid alpha N acetyl neuraminidase (sialidase). See also mucolipidosis, mucopolysaccharidosis. * * * SYN: cherry red spot myoclonus syndrome. * * * si·al·i·do·sis (si al″ĭ doґsis)… … Medical dictionary
mucolipidosis I — sialidosis … Medical dictionary
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
Progressive myoclonic epilepsy — Classification and external resources ICD 9 333.2 MeSH D020191 Progressive myo … 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
