Amniocentesis was performed at 17 weeks' gestation on a 39-year-old woman at risk of being a carrier for X-linked adrenoleukodystrophy (X-ALD). Her first son had been affected with childhood cerebral X-ALD and had died at the age of nine years. DNA analysis had not been performed nor was any materia
โฆ LIBER โฆ
DNA diagnosis of X-linked adrenoleukodystrophy
โ Scribed by S. Seneca; W. Lissens
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 798 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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Our objective was to review the Australasian experience of X-linked adrenoleukodystrophy (ALD), to compare the spectrum of disease seen in Australasia with previously published data from elsewhere, and to assess the reliability of carrier testing. Study design was a retrospective review of records c