Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?

Clin Genet. 2006 Apr;69(4):363-6. doi: 10.1111/j.1399-0004.2006.00596.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Cation Transport Proteins / genetics*
  • Child
  • Copper-Transporting ATPases
  • Follow-Up Studies
  • Genotype
  • Hair / ultrastructure
  • Humans
  • Male
  • Menkes Kinky Hair Syndrome / diagnosis
  • Menkes Kinky Hair Syndrome / drug therapy*
  • Menkes Kinky Hair Syndrome / genetics*
  • Mutation
  • Phenotype
  • Treatment Outcome

Substances

  • Cation Transport Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases