Linked Life Data

15110498

Source:http://linkedlifedata.com/resource/pubmed/id/15110498

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9418
pubmed:dateCreated
2004-4-27
pubmed:abstractText
Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass, and other connective-tissue manifestations. The most frequently used classification outlines four clinical types, which we have expanded to seven distinct types. In most patients the disorder is caused by mutations in one of the two genes encoding collagen type 1, but in some individuals no such mutations are detectable. The most important therapeutic advance is the introduction of bisphosphonate treatment for moderate to severe forms of osteogenesis imperfecta. However, at present, the best treatment regimen and the long-term outcomes of bisphosphonate therapy are unknown. Although this treatment does not constitute a cure, it is an adjunct to physiotherapy, rehabilitation, and orthopaedic care. Gene-based therapy presently remains in the early stages of preclinical research.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1474-547X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
24
pubmed:volume
363
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1377-85
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Osteogenesis imperfecta.
pubmed:affiliation
Genetics Unit, Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montréal, Québec, Canada H3G 1A6.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't