Linked Life Data

12707732

Source:http://linkedlifedata.com/resource/pubmed/id/12707732

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2003-4-22
pubmed:abstractText
Autosomal recessive osteopetrosis is a rare, fatal disease characterized by accumulation of excessive bone mass due to defective bone resorption. The pathogenesis of osteopetrosis is controversial. Osteoblast-osteoclast interaction defects, incorrect differentiation of osteoclasts, abnormal contact between osteoclast and extracellular matrix, and abolished signaling are included in this process. Recently, mutations in the gene of the vacuolar proton pump have been described in some cases of recessive osteopetrosis. Glanzmann's thrombasthenia (GT) is a rare hereditary qualitative platelet disorder characterized by a lifelong bleeding tendency due to quantitative and qualitative abnormalities of the platelet integrin alpha(IIb) beta3. Several mutations on either integrin alpha(IIb) [glycoprotein (GP) IIb] or integrin beta(3) (GP IIIa) were reported in GT. We report on a patient with autosomal recessive osteopetrosis concurrently diagnosed with variant type Glanzmann's thrombasthenia. To our knowledge, our patient was the first case reported in the literature in which osteopetrosis and Glanzmann's thrombasthenia were diagnosed together.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0939-5555
pubmed:author
pubmed:issnType
Print
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
254-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Osteopetrosis and Glanzmann's thrombasthenia in a child.
pubmed:affiliation
Department of Pediatric Hematology, Dr Sami Ulus Children's Hospital, 06900 Telsizler-Ankara, Turkey. yarali@ada.net.tr
pubmed:publicationType
Journal Article, Case Reports