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5 Written questions

4 Matching questions

  1. Tay-Sachs disease - presentation
  2. Fabry's disease - deficiency
  3. Gaucher's disease - Inheritance
  4. hunter's syndrome - inheritance
  1. a AR
  2. b alpha-galactosidase A
  3. c Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
  4. d XR

5 Multiple choice questions

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

5 True/False questions

  1. hurler's syndrome - accumulated substrateGlucocerebroside

          

  2. Niemann-Pick disease - inheritanceSphingomyelinase

          

  3. hunter's syndrome - deficiencyalpha-L-iduronidase

          

  4. Niemann-pick disease - accumulated substrateGM2 ganglioside

          

  5. Tay-Sachs disease - deficiencyHexosaminidase A