Article
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.
Annals of neurology - 1 Apr 2001
Bezman L, Moser A B, Raymond G V, Rinaldo P, Watkins P A, Smith K D, Kass N E, Moser H W
Abstract excerpt
Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X-linked adrenoleukodystrophy (X-ALD) hemizygotes from the United States identified each year in the two laboratories that perform most of the assays in this country: the Kennedy Krieger Institute between 1981 and 1998 and the Mayo Clinic Rochester from 1996 to 1998....
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