Article
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
Journal of inherited metabolic disease - 1 Jan 1992
Moser H W, Moser A B, Smith K D, Bergin A, Borel J, Shankroff J, Stine O C, Merette C, Ott J, Krivit W
Abstract excerpt
X-linked adrenoleukodystrophy (ALD) is a relatively common disorder that shows a great deal of phenotypic variability. Approximately half of the patients have the rapidly progressive childhood cerebral form that is associated with an inflammatory response in brain and leads to total disability or death during the first decade. Twenty five per cent or more of the patients have adrenomyeloneuropathy (AMN), a form...
Topics
- Adolescent
- Adrenoleukodystrophy
- Adult
- Aged
- Bone Marrow Transplantation
- Humans
- Middle Aged
- Phenotype
- X Chromosome