异染性脑白质营养不良

儿童异染性脑白质营养不良的MRI表现

MRI appearance of metachromatic leukodystrophy in children

10例异染性脑白质营养不良的临床特征及其诊断

Clinical characteristics and diagnosis of metachromatic leukodystrophy in 10 cases

异染性脑白质营养不良的临床及实验室研究

The clinical and experimental studies of metachromatic leukodystrophy

报道1例少年型异染性脑白质营养不良的临床与病理。

We report the clinical neurological and pathological manifestations of a patient with metachromatic leukodystrophy .

无脑白质影像学改变的晚发婴儿型异染性脑白质营养不良重型珠蛋白生成障碍性贫血患儿基因突变及免疫紊乱的特点

Late-onset infantile metachromatic leukodystrophy without MRI abnormalities in white matter Study on Genotypes of Children with Beta-Thalassemia Major and Their Immune Abnormalities

目的分析3例脑白质影像学无改变的晚发婴儿型异染性脑白质营养不良患儿的临床、电生理、影像学和病理学改变特点，总结其特征表现和诊断规律。

Objective The clinical manifestation , electrophysiological , imaging and pathological characteristics and diagnosis of 3 patients with late-onset infantile metachromatic leukodystrophy without marked cranial MRI changes were analyzed and reviewed .