对患有法布里病的变异半合子和杂合子心脏中积累的神经酰胺三己糖苷进行免疫荧光分析。
Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease.
作者信息
Itoh K, Takenaka T, Nakao S, Setoguchi M, Tanaka H, Suzuki T, Sakuraba H
机构信息
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Honkomagome, Bunkyo-ku, Japan.
出版信息
Am J Cardiol. 1996 Jul 1;78(1):116-7. doi: 10.1016/s0002-9149(96)00241-x.
PMID:8712102
Abstract
An immunofluorescence method was applied to detect trihexosylceramide accumulated in the cardiac tissues from a variant hemizygote and a heterozygous female with Fabry disease, the incidence of which had been suspected to be high.
摘要
应用免疫荧光法检测来自一名变异半合子和一名法布里病杂合子女性心脏组织中蓄积的神经酰胺三己糖苷，该病的发病率据怀疑较高。
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