Muscle biopsy in Pompe disease.

  title={Muscle biopsy in Pompe disease.},
  author={Lineu C{\'e}sar Werneck and Paulo Jos{\'e} Lorenzoni and Cl{\'a}udia Suemi Kamoi Kay and Rosana Herm{\'i}nia Scola},
  journal={Arquivos de neuro-psiquiatria},
  volume={71 5},
UNLABELLED Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases. METHODS A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases). RESULTS Vacuoles with or without glycogen storage were found in 18 cases. All cases had increased acid phosphatase activity. The vacuole frequency varied (almost all fibers in the… CONTINUE READING


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