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肾上腺脑白质营养不良的临床类型

[Clinical types of adrenoleukodystrophy].

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收录情况: ◇ 北大核心 ◇ 中华系列

机构: [1]首都医学院宣武医院,北京100053
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With gas chromatography, we established a method of determining plasma very long-chain fatty acids (VLCFA). Eight cases with adrenoleukodystrophy (ALD) were confirmed by using plasma VLCFA assay as the diagnostic method. The phenotypes of the 8 patients are as follows: 1. Childhood ALD; 2. Adolescent ALD; 3. Adult cerebral ALD: 4. Adrenomyeloneuropathy; 5. Addison's disease without neurologic involvement; 6. Asymptomatic ALD. We do not agree with Moser's classification of ALD as presymptomatic and asymptomatic, but would suggest to have a subclinical type of ALD.

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第一作者机构: [1]首都医学院宣武医院,北京100053
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