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5 Written Questions

5 Matching Questions

  1. Gaucher's disease - accumulated substrated
  2. hunter's syndrome - inheritance
  3. hunter's syndrome - accumulated substrate
  4. Gaucher's disease - presentation
  5. hunter's syndrome - presentation
  1. a Most common; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)
  2. b heparan sulfate, dermatan sulfate
  3. c Glucocerebroside
  4. d mild hurler's + aggressive behavior, no corneal clouding
  5. e XR

5 Multiple Choice Questions

  1. Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
  2. AR
  3. alpha-galactosidase A
  4. arylsulfatase A
  5. Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

5 True/False Questions

  1. Hurler's syndrome - presentationdevelopmental dealy, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

          

  2. Niemann-Pick disease - inheritanceSphingomyelinase

          

  3. metachromatic leukodystrophy - inheritanceAR

          

  4. Tay-Sachs disease - Accumulated substrateGM2 ganglioside

          

  5. Niemann-Pick disease - deficiencyAR

          

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