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5 Written questions

5 Matching questions

  1. Fabry's disease - presentation
  2. Tay-Sachs disease - Accumulated substrate
  3. Hurler's syndrome - presentation
  4. Niemann-Pick disease - deficiency
  5. Fabry's disease - inheritance
  1. a XR
  2. b developmental dealy, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
  3. c Sphingomyelinase
  4. d GM2 ganglioside
  5. e Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

5 Multiple choice questions

  1. AR
  2. AR
  3. iduronate sulfatase,
  4. beta - glucocerebrosidase
  5. Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin

5 True/False questions

  1. hunter's syndrome - accumulated substrateGlucocerebroside

          

  2. Gaucher's disease - accumulated substratedCeramide trihexoside

          

  3. Niemann-pick disease - accumulated substrateGM2 ganglioside

          

  4. Tay-Sachs disease - deficiencyAR

          

  5. Gaucher's disease - presentationMost common; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)