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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Adrenoleukodystrophy: heterogeneity in two brothers.

A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis and nomenclature.[1]

References

  1. Adrenoleukodystrophy: heterogeneity in two brothers. Elrington, G.M., Bateman, D.E., Jeffrey, M.J., Lawton, N.F. J. Neurol. Neurosurg. Psychiatr. (1989) [Pubmed]
 
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