X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects - PhDData

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X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects

The thesis was published by Horn, Morten Andreas, in January 2016, University in Oslo.

Abstract:

In this thesis for the degree of PhD, cand.med. Morten Andreas Horn and his coworkers have surveyed the Norwegian population of patients with X-linked adrenoleukodystrophy. Their findings contribute to our knowledge of the prevalence and incidence of X-ALD, as well as the rate of new mutations among newborns. The researchers gained new knowledge about the severity and progression of X-ALD among males and females, and describe a pattern of age-dependent penetrance. On the other hand, cases with mild phenotypes are also found, and may be more important if newborn screening for X-ALD is introduced. A separate paper describes small nerve fiber involvement in X-ALD patients, a finding not previously reported.



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