Source:http://linkedlifedata.com/resource/pubmed/id/18580692
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
2008-7-16
|
| pubmed:abstractText |
Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiology of Hunter syndrome. The Hunter Outcome Survey (HOS) was established to better describe the natural history of this disorder and to evaluate the long-term effect of enzyme replacement therapy.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
1530-0366
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
10
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
508-16
|
| pubmed:meshHeading |
pubmed-meshheading:18580692-Body Weights and Measures,
pubmed-meshheading:18580692-Child,
pubmed-meshheading:18580692-Cross-Sectional Studies,
pubmed-meshheading:18580692-Female,
pubmed-meshheading:18580692-Glycoproteins,
pubmed-meshheading:18580692-Humans,
pubmed-meshheading:18580692-Male,
pubmed-meshheading:18580692-Mucopolysaccharidosis II,
pubmed-meshheading:18580692-Mutation,
pubmed-meshheading:18580692-Phenotype,
pubmed-meshheading:18580692-Prevalence,
pubmed-meshheading:18580692-Treatment Outcome
|
| pubmed:year |
2008
|
| pubmed:articleTitle |
Initial report from the Hunter Outcome Survey.
|
| pubmed:affiliation |
From the 1Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom. ed.wraith@cmmc.nhs.uk
|
| pubmed:publicationType |
Journal Article
|