Enzyme replacement therapy for infantile-onset pompe disease: curse or cure?

Neurology. 2008 Jul 29;71(5):380-1. doi: 10.1212/01.wnl.0000319722.16673.27.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Age Factors
  • Disease Progression
  • Fatal Outcome
  • Female
  • Glucan 1,4-alpha-Glucosidase / administration & dosage*
  • Glucan 1,4-alpha-Glucosidase / adverse effects*
  • Glucan 1,4-alpha-Glucosidase / deficiency
  • Glycogen / metabolism
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / physiopathology
  • Glycogen Storage Disease Type II / therapy*
  • Humans
  • Infant, Newborn
  • Lysosomes / drug effects
  • Lysosomes / metabolism
  • Male
  • Muscle Weakness / drug therapy
  • Muscle Weakness / enzymology
  • Muscle Weakness / physiopathology
  • Respiration, Artificial / adverse effects*
  • Respiratory Insufficiency / drug therapy
  • Respiratory Insufficiency / enzymology
  • Respiratory Insufficiency / physiopathology
  • Respiratory Muscles / drug effects*
  • Respiratory Muscles / enzymology
  • Respiratory Muscles / physiopathology
  • Treatment Failure
  • Ventilator Weaning / statistics & numerical data*

Substances

  • Glycogen
  • Glucan 1,4-alpha-Glucosidase