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5 Written questions

4 Matching questions

  1. metachromatic leukodystrophy - inheritance
  2. Krabbe's disease - deficiency
  3. hunter's syndrome - accumulated substrate
  4. Fabry's disease - inheritance
  1. a AR
  2. b galactocerebrosidase
  3. c XR
  4. d heparan sulfate, dermatan sulfate

5 Multiple choice questions

  1. galactocerebroside
  2. Most common; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)
  3. beta - glucocerebrosidase
  4. Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
  5. alpha-L-iduronidase

5 True/False questions

  1. Tay-Sachs disease - deficiencyHexosaminidase A

          

  2. Tay-Sachs disease - Accumulated substrateGM2 ganglioside

          

  3. Gaucher's disease - InheritanceXR

          

  4. Tay-Sachs disease - presentationProgressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin

          

  5. hurler's syndrome - inheritanceXR

          

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