Phenotypic continuum in neuronopathic Gaucher disease: An intermediate phenotype between type 2 and type 3
Phenotypic continuum in neuronopathic Gaucher disease: An intermediate phenotype between type 2 and type 3
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DOI：
10.1067/s0022-3476(03)00302-0
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发表时间：
2003-08-01
影响因子：
5.1
通讯作者：
Sidransky, E
中科院分区：
文献类型：
--
作者：
Goker-Alpan, O;Schiffmann, R;Sidransky, E
神经病变的高谢病，经典地分为两种类型，可以有一系列的表型，经常无视分类。9名儿童有中间表型，其特征是起病年龄延迟，但进展迅速。包括难治性癫痫发作和动眼神经异常。这些患者之间存在基因异质性。
Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease. including refractory seizures and oculomotor abnormalities. There was genotypic heterogeneity among these patients.