Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

N Engl J Med. 2001 Jul 5;345(1):25-32. doi: 10.1056/NEJM200107053450104.
No abstract available

Publication types

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

MeSH terms

  • Cardiac Output / drug effects
  • Cardiomyopathy, Hypertrophic / etiology*
  • Cardiomyopathy, Hypertrophic / pathology
  • Cardiomyopathy, Hypertrophic / physiopathology
  • Echocardiography
  • Fabry Disease / complications
  • Fabry Disease / drug therapy*
  • Fabry Disease / genetics
  • Fabry Disease / physiopathology
  • Galactose / pharmacology
  • Galactose / therapeutic use*
  • Heart / drug effects
  • Humans
  • Infusions, Intravenous
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Molecular Chaperones / physiology
  • Mutation, Missense
  • Myocardium / pathology
  • Myocardium / ultrastructure
  • alpha-Galactosidase / physiology

Substances

  • Molecular Chaperones
  • alpha-Galactosidase
  • Galactose