X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

doi:10.1136/jnnp.57.6.759

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Article

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 1994

Kennedy C R, Allen J T, Fensom A H, Steinberg S J, Wilson R

Abstract excerpt

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 o...

Topics

Adrenoleukodystrophy
Child
Fatty Acids
Gene Expression
Genetic Linkage
Humans
Male
Mass Screening
Phenotype
Sensitivity and Specificity
Tomography, X-Ray Computed
X Chromosome

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