Clinical Variability in 2 Siblings With Late-Onset Pompe Disease

J Clin Neuromuscul Dis. 2018 Sep;20(1):47-48. doi: 10.1097/CND.0000000000000216.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Glycogen Storage Disease Type II / genetics
  • Glycogen Storage Disease Type II / metabolism*
  • Humans
  • Male
  • Middle Aged
  • Siblings*
  • alpha-Glucosidases / genetics
  • alpha-Glucosidases / metabolism

Substances

  • alpha-Glucosidases