X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.

  title={X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.},
  author={Asif Mahmood and Prachi Dubey and Hugo W. Moser and Ann Moser},
  journal={Pediatric transplantation},
  volume={9 Suppl 7},
X-linked adrenoleukodystrophy (X-ALD) in males can present with eight distinct phenotypes, which vary greatly in respect to phenotypic expression, age of onset and rate of progression and therapy. The plasma very long chain fatty acid assay permits precise diagnosis and is already abnormal at birth. The clinical features, molecular biology, pathogenesis, and therapeutic approaches, including the indications for Hematopoietic Stem Cell Transplants (HCT) and dietary therapy are discussed, with… CONTINUE READING

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