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5 Written questions

5 Matching questions

  1. Gaucher's disease - presentation
  2. Krabbe's disease - accumulated substrate
  3. metachromatic leukodystrophy - inheritance
  4. Tay-Sachs disease - deficiency
  5. Fabry's disease - Accumulated substrate
  1. a galactocerebroside
  2. b Hexosaminidase A
  3. c Most common; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)
  4. d Ceramide trihexoside
  5. e AR

5 Multiple choice questions

  1. Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
  2. heparan sulfate, dermatan sulfate
  3. alpha-galactosidase A
  4. Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
  5. central and peripheral demyelination w/ ataxia dementia

5 True/False questions

  1. hunter's syndrome - accumulated substrateGlucocerebroside

          

  2. Niemann-pick disease - accumulated substrateSphingomyelin

          

  3. metachromatic leukodystrophy - accumulated substratecentral and peripheral demyelination w/ ataxia dementia

          

  4. Niemann-Pick disease - deficiencySphingomyelinase

          

  5. Niemann-Pick disease - inheritanceAR