Reach Us +44-7426-607635
All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.


Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations

Early onset Pompe disease is a rare disorder often diagnosed late. Hypotonia, muscle weakness and cardiorespiratory dysfunction are its hallmark. Blood assay of the GAA enzyme is a sensitive and specific marker of the disease. Early intervention with enzyme replacement therapy (ERT) improves morbidity and long term survival, however therapy is both costly and a lifelong requirement. Gene therapy which is on the horizon appears promising.


Bulbulia BA, Nazeefah Laher and Raeesa Bulbulia

Abstract | Full-Text | PDF

Share this  Facebook  Twitter  LinkedIn  Google+
Flyer image

Abstracted/Indexed in

  • Index Copernicus
  • China National Knowledge Infrastructure (CNKI)
  • Directory of Research Journal Indexing (DRJI)
  • Publons
  • Secret Search Engine Labs