| 单词 | gaucher disease, type 1 |
| 释义 | Gaucher disease, type 1Gaucher disease, type 1An AR noncerebral juvenile form of GD most common in Ashkenazi Jews caused by a defect in glucocerebrosidase, leading to glucocerebroside accumulation in the spleen, liver, lymph nodes Clinical Splenomegaly, anemia, thrombocytopenia, ↑ skin pigmentation, yellow fatty spot on white of eye–pinguecula, severe bone involvement can lead to pain and collapse of hips, shoulders, vertebral column |
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