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of 31 available terms

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5 Written Questions

3 Matching Questions

  1. Tay-Sachs disease - presentation
  2. Gaucher's disease - Inheritance
  3. metachromatic leukodystrophy - accumulated substrate
  1. a Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
  2. b AR
  3. c cerebroside sulfate

5 Multiple Choice Questions

  1. beta - glucocerebrosidase
  2. mild hurler's + aggressive behavior, no corneal clouding
  3. Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
  4. GM2 ganglioside
  5. galactocerebroside

5 True/False Questions

  1. Krabbe's disease - presentationperipheral neuropathy, developmental delay, optic atrophy, globoid cells

          

  2. hurler's syndrome - deficiencyiduronate sulfatase,

          

  3. Fabry's disease - deficiencygalactocerebrosidase

          

  4. hurler's syndrome - accumulated substrateheparan sulfate, dermatan sulfate

          

  5. hunter's syndrome - accumulated substrateGlucocerebroside

          

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