| pubmed-article:19388932 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19388932 | lifeskim:mentions | umls-concept:C0162340 | lld:lifeskim |
| pubmed-article:19388932 | lifeskim:mentions | umls-concept:C1327915 | lld:lifeskim |
| pubmed-article:19388932 | lifeskim:mentions | umls-concept:C0725066 | lld:lifeskim |
| pubmed-article:19388932 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:19388932 | pubmed:dateCreated | 2009-6-26 | lld:pubmed |
| pubmed-article:19388932 | 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. | lld:pubmed |
| pubmed-article:19388932 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19388932 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19388932 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19388932 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19388932 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19388932 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19388932 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:19388932 | pubmed:issn | 1365-2141 | lld:pubmed |
| pubmed-article:19388932 | pubmed:author | pubmed-author:GermeshausenM... | lld:pubmed |
| pubmed-article:19388932 | pubmed:author | pubmed-author:BallmaierMatt... | lld:pubmed |
| pubmed-article:19388932 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19388932 | pubmed:volume | 146 | lld:pubmed |
| pubmed-article:19388932 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19388932 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19388932 | pubmed:pagination | 3-16 | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
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| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:meshHeading | pubmed-meshheading:19388932... | lld:pubmed |
| pubmed-article:19388932 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19388932 | pubmed:articleTitle | Advances in the understanding of congenital amegakaryocytic thrombocytopenia. | lld:pubmed |
| pubmed-article:19388932 | pubmed:affiliation | Department of Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany. Ballmaier.Matthias@mh-hannover.de | lld:pubmed |
| pubmed-article:19388932 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19388932 | pubmed:publicationType | Review | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19388932 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19388932 | lld:pubmed |
