Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

@article{Thurberg2006CharacterizationOP,
  title={Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease},
  author={Beth L. Thurberg and Colleen Lynch Maloney and Charles Vaccaro and Kendra Afonso and Anne Chun-Hui Tsai and Edward H. Bossen and Priya Kishnani and Michael M O'Callaghan},
  journal={Laboratory Investigation},
  year={2006},
  volume={86},
  pages={1208-1220}
}
In Pompe disease, a genetic deficiency of lysosomal acid α-glucosidase, glycogen accumulates abnormally in the lysosomes of skeletal, cardiac and smooth muscle, and contributes to clinically progressive and debilitating muscle weakness. The present study involved 8 infantile-onset Pompe patients, treated weekly with 10 mg/kg of recombinant human acid α-glucosidase (rhGAA). Muscle biopsies were obtained at baseline, 12 and 52 weeks post-treatment to establish an indicator of efficacy. Several… CONTINUE READING

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infantile Pompe disease

  • CM Lynch, J Johnson, C Vaccaro
  • J Pediatr
  • 2006

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