Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results

Muscle Nerve. 2014 May;49(5):775-6. doi: 10.1002/mus.24149.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Age Factors
  • Child
  • Child, Preschool
  • Enzyme Assays / methods*
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / genetics
  • Humans
  • Infant
  • Sequence Analysis, DNA / methods*
  • Young Adult
  • alpha-Glucosidases / genetics*
  • alpha-Glucosidases / metabolism

Substances

  • GAA protein, human
  • alpha-Glucosidases