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pediatric Hematopoietic disorders

  1. Gaucher's Dz
    Gene?
    inheritance?
    findings?
    • AR lysosomal storage dz
    • Deficient Beta-glucocerebrosidase
    • type 1: most common
    • type 2: infantile
    • type 3: chronic neuropathic
    • Erlenmyer flask femur, hepatosplenomegaly, lipid laiden histiocytes
  2. Niemann Pick
    gene?
    inheritance?
    findings?
    • AR
    • accumulation of sphingomyelin
    • eastern european jews
  3. hemophilia
    gene?
    inheritance?
    findings?
    • XR
    • hemophilia A: factor 8
    • hemophilia B: factor 9

    IgG
Author
ortho
ID
96749
Card Set
pediatric Hematopoietic disorders
Description
Hematopoietic disorders
Updated

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