Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.

@article{Horn2013AdrenoleukodystrophyIN,
  title={Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.},
  author={Morten A. Horn and Lars J Retterst\ol and Michael Abdelnoor and Ola Husbeth Skjeldal and Chantal M. E. Tallaksen},
  journal={Pediatric neurology},
  year={2013},
  volume={48 3},
  pages={212-9}
}
To investigate X-linked adrenoleukodystrophy in an unselected population, we performed a population based, cross-sectional prevalence study, supplemented by a retrospective study of deceased subjects. Sixty-three subjects (34 males, 29 females) belonging to 22 kindreds were included. Thirty-nine subjects (13 males, 26 females) were alive, and 24 (21 males, 3 females) were deceased on the prevalence day. The point prevalence of X-linked adrenoleukodystrophy in Norway on July 1, 2011, was 0.8 per… CONTINUE READING
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Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds

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Highly Influential
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