syndrome de hunter
1Hunter's syndrome — or Hunter syndrome hən tər(z) n a mucopolysaccharidosis that is similar to Hurler s syndrome but is inherited as a sex linked recessive trait and has milder symptoms Hunter Charles (1873 1955) Canadian physician. Hunter published his original… …
2Hunter syndrome — Classification and external resources ICD 10 E76.1 ICD 9 277.5 …
3Syndrome de coffin-lowry — Ne pas confondre ce syndrome avec le syndrome de Coffin Siris Syndrome de Coffin Lowry Autre nom Aucun Référence MIM …
4Syndrome de bannayan-riley-ruvalcaba — Autre nom Syndrome de Riley Smith Référence MIM …
5Syndrome de Bannayan-Riley-Ruvalcaba — Référence MIM 153480 Transmission Dominante Chromosome 10q23.31 Gène PTEN Empreinte parentale …
6Hunter syndrome — A genetic metabolic disorder that arises from deficiency of the enzyme iduronate sulfatase, resulting in tissue deposits of molecules called mucopolysaccharides. The characteristic features of Hunter syndrome include dwarfism, bone deformities, a …
7Hunter (disambiguation) — A hunter is someone who engages in the act of hunting.Hunter may also refer to:People* Hunter (name), a given name and a family name (including a list of people with that name)PlacesAustralia* Division of Hunter, electoral district in the… …
8Syndrome de Coffin-Lowry — Ne pas confondre ce syndrome avec le syndrome de Coffin Siris Syndrome de Coffin Lowry Référence MIM 303600 Transmission Dominante liée à l X Chromosome Xp22.2 p22.1 Gène RPS6KA3 …
9Syndrome d'immunodéficience acquise — « Sida » redirige ici. Pour les autres significations, voir Sida (homonymie). Syndrome d immunodéficience acquise Classification et ressources externes …
10Hunter syndrome — Recessive mucopolysaccharidosis, X linked, in which dermatan and heparan sulphates are not degraded. Because two lysosomal enzymes (heparan sulphate sulphatase and a iduronidase) are involved in the breakdown of these glycosaminoglycans,… …
