Case: Your attending hints the next baby coming in has a face that is very round and soft. He is not retarded mentally but he is short in height. His liver and kidneys are slightly large. He has a defect in his clotting but the hypoglycemia is notable. What is the disease and missing enzyme?
Case: Your attending hints the next baby coming in has a face that is very round and soft. He is not retarded mentally but he is short in height. His liver and kidneys are slightly large. He has a defect in his clotting but the hypoglycemia is notable. What is the disease and missing enzyme?
Answer
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