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5 Written Questions

5 Matching Questions

  1. hunter's syndrome - presentation
  2. Metachromatic leukodystrophy - presentation
  3. Niemann-Pick disease - Presentation
  4. Niemann-Pick disease - deficiency
  5. Krabbe's disease - accumulated substrate
  1. a mild hurler's + aggressive behavior, no corneal clouding
  2. b central and peripheral demyelination w/ ataxia dementia
  3. c galactocerebroside
  4. d Sphingomyelinase
  5. e Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

5 Multiple Choice Questions

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

5 True/False Questions

  1. Fabry's disease - deficiencygalactocerebrosidase

          

  2. Tay-Sachs disease - Accumulated substrateCeramide trihexoside

          

  3. metachromatic leukodystrophy - deficiencyAR

          

  4. hurler's syndrome - deficiencyalpha-L-iduronidase

          

  5. Fabry's disease - Accumulated substrategalactocerebroside

          

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