Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat?

Neurology. 2011 Aug 9;77(6):594-5. doi: 10.1212/WNL.0b013e318228c0ea. Epub 2011 Jul 13.
No abstract available

Publication types

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

MeSH terms

  • Aging / pathology
  • Biopsy
  • Disease Progression
  • Early Diagnosis
  • Enzyme Replacement Therapy*
  • Glycogen / metabolism
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / therapy*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Male
  • Muscle Strength / physiology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Young Adult
  • alpha-Glucosidases / therapeutic use*

Substances

  • Glycogen
  • alpha-Glucosidases