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HERENCIA DEL SÍNDROME DE HUNTER. Existen tres situaciones en las que el síndrome de Hunter puede transmitirse a los hijos, que se convertirán en portadores del gen o se verán afectados por el síndrome de Hunter: SITUACIÓN UNO. SITUACIÓN DOS. SITUACIÓN TRES.
6 de nov. de 2007 · Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings.
24 de may. de 2020 · The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients | BMC Medical Genetics | Full Text. Home. Articles. Research article. Open access. Published: 24 May 2020.
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase ...
A number sign (#) is used with this entry because mucopolysaccharidosis type II (MPS2), also known as Hunter syndrome, is caused by mutation in the gene encoding iduronate 2-sulfatase (IDS; 300823) on chromosome Xq28. Description.
6 de oct. de 2022 · Hunter syndrome is an X-linked recessive disorder caused by mutations in the iduronate 2-sulfatase ( IDS) gene, responsible for the degradation of heparan and dermatan sulfate. Mutations of IDS lead to accumulation of proteoglycan products in tissues, leading to organ dysfunction and growth abnormalities 3. Radiographic features.
24 de may. de 2020 · The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients - PMC. Journal List. BMC Med Genet. v.21; 2020. PMC7247178. As a library, NLM provides access to scientific literature.
