Phenotypic continuum in neuronopathic Gaucher disease: An intermediate phenotype between type 2 and type 3

被引：108

作者：

Goker-Alpan, O

Schiffmann, R

Park, JK

Stubblefield, BK

Tayebi, N

Sidransky, E

机构：

[1] NIMH, Sect Mol Neurogenet, NIH, Bethesda, MD 20892 USA

[2] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[3] NINDS, Dev & Metab Neurol Branch, NIH, Bethesda, MD 20892 USA

来源：

JOURNAL OF PEDIATRICS | 2003年 / 143卷 / 02期

关键词：

D O I：

10.1067/S0022-3476(03)00302-0

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

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页码：273 / 276

页数：4

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