[高雪氏病：弗留利一个家族的研究]
[Gaucher's disease: study of a family from Friuli].
作者信息
Virgolini L, Silvestri F, Savignano C, Comelli M, Baccarani M
机构信息
Istituto di Morfologia Clinica e Sperimentale, Università degli Studi di Udine.
出版信息
Minerva Med. 1993 Mar;84(3):145-9.
PMID:8492967
Abstract
Gaucher's disease is the most frequent of lysosomal storage diseases. In a family study two affected sisters of a type I patient were identified. Two of them underwent splenectomy, so reaching hematological normalization.
摘要
戈谢病是最常见的溶酶体贮积病。在一项家族研究中，发现了一名I型患者的两名患病姐妹。其中两人接受了脾切除术，从而实现了血液学正常化。
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