## X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal β€-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: childhood cerebral (CCALD), adolescent cerebral (AdolCALD), adult cerebral (ACAL
ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
β Scribed by S. Kemp; P. A. W. Mooyer; P. A. Bolhuis; B. M. van Geel; J. L. Mandel; P. G. Barth; P. Aubourg; R. J. A. Wanders
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 597 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0141-8955
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X-linked adrenoleukodystrophy (X-ALD) is due to an impairment in the peroxisomal -oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement of VLCFAs in cultured amniotic fluid cells (CAF) and ch
Five patients with various clinical and genetic phenotypes of adrenoleukodystrophy were treated with a diet enriched with glycerol trioleate and glycerol trierucate (GTE). In all patients platelet counts decreased upon the administration of GTE, but no bleeding symptoms occurred in any of the patien
A series of fibroblasts from patients with numerical or structural aberrations of the X chromosome were scored for the amount of mRNA of ribosomal protein S4 (RPS4X). Haplo-insufficiency of this gene has been reported previously to be a possible cause of Turner syndrome. Our results show that the tr