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(Adrenoleukodystrophy )
2,257 results
  • Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme. [Journal Article]
  • OJOrphanet J Rare Dis 2018 Oct 11; 13(1):179
  • Bessey A, Chilcott JB, … Sutton A
  • CONCLUSIONS: Including screening of boys for X-ALD into an existing tandem mass spectrometry based newborn screening programme is projected to reduce lifetime costs and improve outcomes for those with CCALD. The potential disbenefit to those identified with non-CCALD conditions would need to be substantial in order to outweigh the benefit to those with CCALD. Further evidence is required on the potential QALY impact of early diagnosis both for non-CCALD X-ALD and other peroxisomal disorders. The favourable economic results are driven by estimated reductions in the social care and education costs.
  • Natural history of a cohort of ABCD1 variant female carriers. [Journal Article]
  • EJEur J Neurol 2018 Oct 08
  • Schirinzi T, Vasco G, … Cappa M
  • CONCLUSIONS: This study provides data on the natural disease progression of untreated ABCD1 heterozygous female carriers, demonstrating the relevance of aging. The estimated annual increase of the AACS will be useful for future interventional studies.
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