Gaucher disease
glucocerebrosidase
(→treat with recombinant glucocerebrosidase)
☆hepatosplenomegaly, ☆pancytopenia,
+bone lesion(☆avascular necrosis of femur, osteoporosis, bone crisis)
Gaucher cell(lipid-laden cell) can be found throughout the bondy in sites such as liver, bone marrow, and lymphatic tissue
biochemistry
genetics
UWorld
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