X-LINKED ADRENOLEUKODYSTROPHY WITH NONDIAGNOSTIC PLASMA VERY LONG-CHAIN FATTY-ACIDS

被引：17
作者：
KENNEDY, CR
ALLEN, JT
FENSOM, AH
STEINBERG, SJ
WILSON, R
机构：
[1] SOUTHMEAD GEN HOSP,DEPT CLIN CHEM,BRISTOL,AVON,ENGLAND
[2] UNITED MED & DENT SCH GUYS & ST THOMAS HOSP,GUYS HOSP,DIV MED & MOLEC GENET,PAEDIAT RES UNIT,LONDON SE1,ENGLAND
[3] UNIV STIRLING,DEPT BIOL & MED SCI,STIRLING,SCOTLAND
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 1994年 / 57卷 / 06期
关键词：
D O I：
10.1136/jnnp.57.6.759
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X-ALD was accompanied by ''non-diagnostic'' concentrations of plasma very long chain fatty acids. The implications for diagnosis of X-ALD are discussed.
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页码：759 / 761
页数：3
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