X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds.

@article{Ruiz1998XlinkedAP,
  title={X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds.},
  author={Marina T{\'e}llez de Cepeda Ruiz and Ma Jos{\'e} Coll and Teresa P{\`a}mpols and Marisa L Giros},
  journal={American journal of medical genetics},
  year={1998},
  volume={76 5},
  pages={424-7}
}
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal beta-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: childhood cerebral (CCALD), adolescent cerebral (AdolCALD), adult cerebral (ACALD), adrenomyeloneuropathy (AMN), Addison-only (AO), and presymptomatic (PALD). The distribution of phenotypes varies in different countries. We have diagnosed biochemically 60 X-ALD Spanish patients… CONTINUE READING

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