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5 Written Questions

5 Matching Questions

  1. Fabry's disease - inheritance
  2. Gaucher's disease - Inheritance
  3. Fabry's disease - deficiency
  4. Niemann-pick disease - accumulated substrate
  5. Niemann-Pick disease - Presentation
  1. a XR
  2. b alpha-galactosidase A
  3. c Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
  4. d Sphingomyelin
  5. e AR

5 Multiple Choice Questions

  1. arylsulfatase A
  2. iduronate sulfatase,
  3. galactocerebrosidase
  4. developmental dealy, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
  5. alpha-L-iduronidase

5 True/False Questions

  1. Fabry's disease - Accumulated substrategalactocerebroside

          

  2. Krabbe's disease - presentationPeripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

          

  3. hunter's syndrome - accumulated substrateheparan sulfate, dermatan sulfate

          

  4. Tay-Sachs disease - presentationPeripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

          

  5. Metachromatic leukodystrophy - presentationAR

          

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