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5 Written questions

4 Matching questions

  1. hunter's syndrome - presentation
  2. metachromatic leukodystrophy - inheritance
  3. Tay-Sachs disease - Accumulated substrate
  4. Krabbe's disease - deficiency
  1. a mild hurler's + aggressive behavior, no corneal clouding
  2. b galactocerebrosidase
  3. c AR
  4. d GM2 ganglioside

5 Multiple choice questions

  1. arylsulfatase A
  2. AR
  3. Sphingomyelinase
  4. Ceramide trihexoside
  5. AR

5 True/False questions

  1. hurler's syndrome - deficiencyiduronate sulfatase,

          

  2. Niemann-Pick disease - inheritanceSphingomyelinase

          

  3. Fabry's disease - presentationperipheral neuropathy, developmental delay, optic atrophy, globoid cells

          

  4. Niemann-pick disease - accumulated substrateSphingomyelin

          

  5. hunter's syndrome - deficiencyiduronate sulfatase,

          

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