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Questions and Answers
Which gene mutation causes I-cell disease?
Which gene mutation causes I-cell disease?
- GNPTAC
- GNPTAA
- GNPTAB (correct)
- GNPTAD
What are the hallmark features of I-cell disease?
What are the hallmark features of I-cell disease?
- Skeletal abnormalities
- Joint stiffness
- Facial dysmorphism
- All of the above (correct)
What is the primary focus of treatment for I-cell disease?
What is the primary focus of treatment for I-cell disease?
- Managing symptoms (correct)
- Preventing disease progression
- Curing the disease
- Improving organ function
Which of the following is NOT a symptom of I-cell disease?
Which of the following is NOT a symptom of I-cell disease?
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What causes the dysfunction of enzymes in I-cell disease?
What causes the dysfunction of enzymes in I-cell disease?
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What is the prognosis for individuals with I-cell disease?
What is the prognosis for individuals with I-cell disease?
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