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5 Written questions

5 Matching questions

  1. Tay-Sach disease - Inheritance
  2. Niemann-pick disease - accumulated substrate
  3. Niemann-Pick disease - deficiency
  4. hunter's syndrome - inheritance
  5. Krabbe's disease - deficiency
  1. a AR
  2. b galactocerebrosidase
  3. c Sphingomyelin
  4. d XR
  5. e Sphingomyelinase

5 Multiple choice questions

  1. AR
  2. heparan sulfate, dermatan sulfate
  3. AR
  4. Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
  5. cerebroside sulfate

5 True/False questions

  1. Tay-Sachs disease - Accumulated substrateGM2 ganglioside

          

  2. Fabry's disease - inheritanceXR

          

  3. Hurler's syndrome - presentationmild hurler's + aggressive behavior, no corneal clouding

          

  4. hunter's syndrome - presentationdevelopmental dealy, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

          

  5. Niemann-Pick disease - PresentationProgressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin