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19206 Pathology

A 22-year-old woman delivers an apparently healthy female infant after an uncomplicated pregnancy. By 4 years of age, the girl has progressive, severe neurologic deterioration. Physical examination shows marked hepatosplenomegaly. A bone marrow biopsy specimen shows numerous foamy vacuolated macrophages. Analysis of which of the following factors is most likely to aid in the diagnosis of this condition?

ALevel of a1-antitrypsin in the serum
BLevel of glucose-6-phosphatase in hepatocytes
CLevel of sphingomyelinase in splenic macrophages
DNumber of LDL receptors on hepatocytes
Pathology
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