Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

Slični predmeti

• Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes
  od: Appadurai, Vivek, i dr.
  Izdano: (2015)
• A useful multi-analyte blood test for cerebrotendinous xanthomatosis
  od: DeBarber, Andrea E, i dr.
  Izdano: (2014)
• A useful multi-analyte blood test for cerebrotendinous xanthomatosis
  od: Andrea E. DeBarber, i dr.
  Izdano: (2014)
• Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
  od: Guenzel, Adam J., i dr.
  Izdano: (2021)
• Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability
  od: Larson, Austin, i dr.
  Izdano: (2016)