应重视戈谢病的实验室诊断
戈谢病是一种溶酶体贮积病，主要是由于缺乏溶酶体内酸性葡萄糖脑苷脂酶，而导致其不能代谢的底物葡萄糖脑苷脂在单核细胞和（或）巨嗜细胞系贮积，主要影响脾、肝脏和骨髓。临床表现有轻有重，可以在婴儿期发病，也可能在成人期发病，常见表现为肝脾增大、贫血、血小板减少、骨痛、骨折。...
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| Veröffentlicht in: | Zhong hua yi xue za zhi 2009, Vol.89 (44), p.3099-3100 |
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| container_title | Zhong hua yi xue za zhi |
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| creator | 张惠文 顾学范 |
| description | 戈谢病是一种溶酶体贮积病，主要是由于缺乏溶酶体内酸性葡萄糖脑苷脂酶，而导致其不能代谢的底物葡萄糖脑苷脂在单核细胞和（或）巨嗜细胞系贮积，主要影响脾、肝脏和骨髓。临床表现有轻有重，可以在婴儿期发病，也可能在成人期发病，常见表现为肝脾增大、贫血、血小板减少、骨痛、骨折。 |
| doi_str_mv | 10.3760/cma.j.issn.0376-2491.2009.44.002 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0376-2491 |
| ispartof | Zhong hua yi xue za zhi, 2009, Vol.89 (44), p.3099-3100 |
| issn | 0376-2491 |
| language | chi |
| recordid | cdi_wanfang_journals_zhyx200944002 |
| source | EZB-FREE-00999 freely available EZB journals |
| subjects | 临床表现 单核细胞 实验室诊断 常见表现 戈谢病 溶酶体贮积病 葡萄糖脑苷脂酶 血小板减少 |
| title | 应重视戈谢病的实验室诊断 |
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