Linked Life Data

19388932

Source:http://linkedlifedata.com/resource/pubmed/id/19388932

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-6-26
pubmed:abstractText
Congenital amegakaryocytic thrombocytopenia (MIM #604498) is an extremely rare inherited bone marrow failure syndrome, usually presenting as a severe thrombocytopenia at birth due to ineffective megakaryocytopoiesis and no characteristic physical anomalies. Usually the isolated thrombocytopenia progresses to pancytopenia during the first years of life. The only curative therapy to date is haematopoietic stem cell transplantation. Most of the cases of congenital amegakaryocytic thrombocytopenia are caused by defective expression or function of the thrombopoietin receptor due to homozygous or compound heterozygous mutations in the gene MPL. The essential roles of thrombopoietin as a lineage specific regulator of platelet production and as a regulator of haematopoietic stem cell function are reflected in the haematological defects seen in affected individuals.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1365-2141
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
146
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3-16
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
pubmed:affiliation
Department of Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany. Ballmaier.Matthias@mh-hannover.de
pubmed:publicationType
Journal Article, Review