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半乳糖血症诊断方法研究进展 被引量:2

Progress in Galactoaemia Diagnosis
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摘要 半乳糖血症是半乳糖代谢中酶功能缺陷所引起的一种遗传性代谢缺陷病,呈常染色体隐性遗传,其在欧美人群中的发病率约为1/3万。1/5万,我国台湾省的筛查显示当地的发病率约为1/40万。半乳糖血症的临床症状出现较早,早期明确诊断并给予及时的治疗可以极大改善患儿的临床症状,减少伤残程度。
作者 梅慧芬 刘丽
出处 《国际儿科学杂志》 2007年第2期154-156,F0003,共4页 International Journal of Pediatrics
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