Category Archives: Case Studies

Case Study #7: What Happened to His Eyes?

presented by Quinn Molloy, Aidan Sun, and Anna Yang on November 18, 2022 Answers to discussion questions: Question 1: Would the patient have inherited these mutations from his mother, father, or both parents? Should the patient worry about passing this … Continue reading

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Case Study #6: Trouble Breathing?

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Case Study #5: Tarui Disease 

BC362, Medical Biochemistry Case Background: A 15-year-old male is brought into your emergency department after his very first cross country race. He complains of pain, severe muscle cramps, vomiting, and slight jaundice that began after his race. His urine is … Continue reading

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Case Study: Glycogen Storage Disorder

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Case Study #4: Importance of Enzyme Structure

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Case Study #3: The “Silent” Disease

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Case Study #2: Young Patient, Old Liver

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Case Study #1: An Unfortunate Overdose

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