Menkes disease: recent advances and new aspects

J Med Genet. 1997 Apr;34(4):265-74. doi: 10.1136/jmg.34.4.265.
No abstract available

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism
  • Animals
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Cation Transport Proteins*
  • Copper / metabolism
  • Copper-Transporting ATPases
  • Female
  • Hepatolenticular Degeneration / genetics
  • Hepatolenticular Degeneration / physiopathology
  • Humans
  • Male
  • Menkes Kinky Hair Syndrome / diagnosis
  • Menkes Kinky Hair Syndrome / genetics*
  • Menkes Kinky Hair Syndrome / therapy
  • Mice
  • Recombinant Fusion Proteins*

Substances

  • Atp7a protein, mouse
  • Carrier Proteins
  • Cation Transport Proteins
  • Recombinant Fusion Proteins
  • Copper
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases