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Natural history of Fabry disease in affected males and obligate carrier females.

作者信息

MacDermot K D, Holmes A, Miners A H

机构信息

Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.

出版信息

J Inherit Metab Dis. 2001;24 Suppl 2:13-4; discussion 11-2. doi: 10.1023/a:1012447102358.

DOI:10.1023/a:1012447102358
PMID:11758673
Abstract
摘要

相似文献

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Renal involvement in an Anderson-Fabry heterozygote.安德森-法布里杂合子的肾脏受累情况。
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Episodic pain in Fabry disease is mediated by a heat shock protein-TRPA1 axis.法布里病的发作性疼痛由热休克蛋白 -TRPA1 轴介导。
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confocal microscopic study of cornea verticillata and limbus deposits in patients with Fabry disease.法布里病患者角膜涡状浑浊和角膜缘沉积物的共聚焦显微镜研究
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