Adrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oil

@article{Moser1995AdrenoleukodystrophyMG,
  title={Adrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oil},
  author={Hugo W. Moser and James M. Powers and K. D. Smith},
  journal={Brain Pathology},
  year={1995},
  volume={5}
}
Knowledge about adrenoleukodystrophy (ALD), a disorder which was described first in 1923, has increased greatly during recent years. The principal biochemical abnormality, the presumed enzyme defect, and the gene defect, have been defined. A dietary therapy has been proposed and attracted world‐wide attention through a motion picture. Nevertheless, many questions remain and cannot be answered without a more fundamental understanding of pathology and pathogenesis. This article will provide a… Expand
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TLDR
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Adrenoleukodystrophy is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex and can be diagnosed by demonstrating an excess of saturated very long chain fatty acids in plasma or red cells. Expand
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TLDR
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TLDR
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TLDR
The frequent occurrence of color vision anomalies observed in patients with adrenomyeloneuropathy thus does not represent a contiguous gene syndrome but a secondary manifestation of ALD, and a detailed characterization of the ALD gene structure is reported. Expand
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TLDR
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