NAME

Question types


Start with


Question limit

of 31 available terms

Advertisement Upgrade to remove ads
Print test

5 Written questions

5 Matching questions

  1. Niemann-pick disease - accumulated substrate
  2. Fabry's disease - Accumulated substrate
  3. hunter's syndrome - presentation
  4. metachromatic leukodystrophy - deficiency
  5. Niemann-Pick disease - deficiency
  1. a arylsulfatase A
  2. b Sphingomyelinase
  3. c Ceramide trihexoside
  4. d Sphingomyelin
  5. e mild hurler's + aggressive behavior, no corneal clouding

5 Multiple choice questions

  1. GM2 ganglioside
  2. AR
  3. iduronate sulfatase,
  4. Most common; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)
  5. Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

5 True/False questions

  1. Krabbe's disease - presentationPeripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

          

  2. Krabbe's disease - deficiencyalpha-galactosidase A

          

  3. Fabry's disease - deficiencyalpha-galactosidase A

          

  4. hurler's syndrome - accumulated substrateheparan sulfate, dermatan sulfate

          

  5. Niemann-Pick disease - PresentationProgressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

          

Create Set