Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2008-5-6
pubmed:abstractText
The medical history of a 46-year-old female patient with dark-blue sclerae showed repeated fractures of the extremity skeleton and clavicular following minor trauma up to the age of 15. The sclerae indicated osteogenesis imperfecta (OI), which leads to disrupted collagen synthesis due to various mutations of the type-1 procollagen gene, which in turn leads to brittle bones with reduced bone density and greater susceptibility to fracture. In OI, distinction is made between varying clinical types which show differing degrees of severity. Bisphosphonates, which can reduce significantly increased bone turnover, are a very promising therapy approach.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0340-1855
pubmed:author
pubmed:issnType
Print
pubmed:volume
67
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
237-8
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
[Blue sclerae syndrome].
pubmed:affiliation
Klinik für Innere Medizin I, Medizinische Fakultät der Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Strasse 40, 06120 Halle. christoph.schaefer@medizin.uni-halle.de
pubmed:publicationType
Journal Article, English Abstract, Case Reports