Shwachman-diamond syndrom Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1024/differentials
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    ... Other rare inherited cytopenias (Diamond-Blackfan anaemia [DBA], Shwachman-Diamond syndrome [SDS], amegakaryocytic thrombocytopenia [AMT]) History Exam 1st investigation ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1024/differentials
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    ... Other rare inherited cytopenias (Diamond-Blackfan anemia [DBA], Shwachman-Diamond syndrome [SDS], amegakaryocytic thrombocytopenia [AMT]) History Exam 1st investigation ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/96/pdf/96.pdf
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    ... congenital disorders. They include Fanconi anaemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and GATA2 deficiency. 4 This PDF of the ... Loss of telomerase produces bone marrow failure. [ 5] • Shwachman-Diamond syndrome is a rare autosomal-recessive disease that produces ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/96/pdf/96.pdf
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    ... congenital disorders. They include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and GATA2 deficiency. • Fanconi anemia is the most ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/893/pdf/893.pdf
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    ... mutations produce bone marrow failure is not known. Shwachman-Diamond syndrome (SDS) • SDS is a rare autosomal-recessive disease ... lait spots (Fanconi anemia), severe eczematous skin rashes (Shwachman-Diamond syndrome), and scleroderma-like changes (dyskeratosis congenita). Hypoplastic thumbs ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/96/aetiology
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    ... congenital disorders. They include Fanconi anaemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and GATA2 deficiency. Fanconi anaemia is the most ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/93/pdf/93.pdf
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    ... proliferation. Loss of telomerase produces bone marrow failure. • Shwachman-Diamond syndrome is a rare autosomal-recessive disease that produces ... Skeletal abnormalities and growth retardation are seen in Shwachman-Diamond ... FBC shows associated neutropenia and thrombocytopenia with ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/96/history-exam
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    ... nih.gov/pubmed/25237198?tool=bestpractice.com or Shwachman-Diamond syndrome. [6] Ruggero D, Shimamura A. Marrow failure: a ... pancreatic insufficiency such as fat malabsorption may suggest Shwachman-Diamond syndrome. [6] Ruggero D, Shimamura A. Marrow failure: a ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/96/history-exam
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    ... nih.gov/pubmed/25237198?tool=bestpractice.com or Shwachman-Diamond syndrome. [6] Ruggero D, Shimamura A. Marrow failure: a ... pancreatic insufficiency such as fat malabsorption may suggest Shwachman-Diamond syndrome. [6] Ruggero D, Shimamura A. Marrow failure: a ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1024/pdf/1024.pdf
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    ... cell cytopenias, such as Diamond-Blackfan anemia (DBA), Shwachman- Diamond syndrome (SDS), and amegakaryocytic thrombocytopenia (AMT), may evolve to ... Other rare inherited cytopenias ( Diamond- Blackfan anemia [ DBA] , Shwachman- Diamond ... amegakaryocytic thrombocytopenia [ AMT] ) Idiopathic portal hypertension Chronic ...
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