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| pubmed-article:19773262 | lifeskim:mentions | umls-concept:C0337810 | lld:lifeskim |
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| pubmed-article:19773262 | lifeskim:mentions | umls-concept:C2717879 | lld:lifeskim |
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| pubmed-article:19773262 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:19773262 | pubmed:dateCreated | 2010-2-8 | lld:pubmed |
| pubmed-article:19773262 | pubmed:abstractText | Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. Mutations in RPS24, RPS17, and RPL35A described in a minority of patients show that Diamond-Blackfan anemia is a disorder of ribosome biogenesis. Two new genes (RPL5, RPL11), encoding for ribosomal proteins of the large subunit, have been reported to be involved in a considerable percentage of patients. | lld:pubmed |
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| pubmed-article:19773262 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:19773262 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:19773262 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19773262 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:19773262 | pubmed:issn | 1592-8721 | lld:pubmed |
| pubmed-article:19773262 | pubmed:author | pubmed-author:DufourCarloC | lld:pubmed |
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| pubmed-article:19773262 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19773262 | pubmed:volume | 95 | lld:pubmed |
| pubmed-article:19773262 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19773262 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19773262 | pubmed:pagination | 206-13 | lld:pubmed |
| pubmed-article:19773262 | pubmed:dateRevised | 2010-9-28 | lld:pubmed |
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| pubmed-article:19773262 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:19773262 | pubmed:articleTitle | Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. | lld:pubmed |
| pubmed-article:19773262 | pubmed:affiliation | Hematology Unit, Pediatric Department, University of Torino Piazza Polonia 94, 10126 Torino, Italy. | lld:pubmed |
| pubmed-article:19773262 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19773262 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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