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5 Written questions

4 Matching questions

  1. Gaucher's disease - presentation
  2. metachromatic leukodystrophy - deficiency
  3. Tay-Sachs disease - presentation
  4. metachromatic leukodystrophy - inheritance
  1. a arylsulfatase A
  2. b Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
  3. c Most common; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)
  4. d AR

5 Multiple choice questions

  1. heparan sulfate, dermatan sulfate
  2. XR
  3. Ceramide trihexoside
  4. iduronate sulfatase,
  5. XR

5 True/False questions

  1. Niemann-Pick disease - deficiencySphingomyelinase

          

  2. Niemann-Pick disease - inheritanceAR

          

  3. Krabbe's disease - deficiencyalpha-galactosidase A

          

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

          

  5. Tay-Sachs disease - deficiencyHexosaminidase A

          

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