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5 Written questions

5 Matching questions

  1. Gaucher's disease - accumulated substrated
  2. Tay-Sachs disease - presentation
  3. Tay-Sachs disease - deficiency
  4. Tay-Sachs disease - Accumulated substrate
  5. hurler's syndrome - inheritance
  1. a GM2 ganglioside
  2. b AR
  3. c Hexosaminidase A
  4. d Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
  5. e Glucocerebroside

5 Multiple choice questions

  1. Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
  2. heparan sulfate, dermatan sulfate
  3. mild hurler's + aggressive behavior, no corneal clouding
  4. AR
  5. heparan sulfate, dermatan sulfate

5 True/False questions

  1. Niemann-pick disease - accumulated substrateSphingomyelin

          

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

          

  3. Fabry's disease - Accumulated substrateCeramide trihexoside

          

  4. metachromatic leukodystrophy - deficiencyarylsulfatase A

          

  5. metachromatic leukodystrophy - inheritanceAR