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5 Written questions

4 Matching questions

  1. hurler's syndrome - inheritance
  2. Niemann-pick disease - accumulated substrate
  3. Niemann-Pick disease - deficiency
  4. hurler's syndrome - deficiency
  1. a AR
  2. b Sphingomyelinase
  3. c Sphingomyelin
  4. d alpha-L-iduronidase

5 Multiple choice questions

  1. beta - glucocerebrosidase
  2. developmental dealy, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
  3. heparan sulfate, dermatan sulfate
  4. GM2 ganglioside
  5. AR

5 True/False questions

  1. Krabbe's disease - deficiencyalpha-galactosidase A

          

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

          

  3. Gaucher's disease - accumulated substratedCeramide trihexoside

          

  4. Tay-Sachs disease - deficiencyHexosaminidase A

          

  5. Niemann-Pick disease - inheritanceSphingomyelinase

          

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