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  1. ... Other rare inherited cytopenias (Diamond-Blackfan anaemia [DBA], Shwachman-Diamond syndrome [SDS], amegakaryocytic thrombocytopenia [AMT]) History Exam 1st investigation ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  2. ... Other rare inherited cytopenias (Diamond-Blackfan anemia [DBA], Shwachman-Diamond syndrome [SDS], amegakaryocytic thrombocytopenia [AMT]) History Exam 1st investigation ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  3. ... 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 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... congenital disorders. They include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and GATA2 deficiency. • Fanconi anemia is the most ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... 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 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... congenital disorders. They include Fanconi anaemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and GATA2 deficiency. Fanconi anaemia is the most ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... 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 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... 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 ... CBC shows associated neutropenia and thrombocytopenia with ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... 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 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... 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 ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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