Pompe disease diagnosis and management guideline

Priya S. Kishnani, Robert D. Steiner, Deeksha Bali, Kenneth Berger, Barry J. Byrne, Laura Case, John F. Crowley, Steven Downs, R. Rodney Howell, Richard M. Kravitz, Joanne Mackey, Deborah Marsden, Anna Maria Martins, David S. Millington, Marc Nicolino, Gwen O'Grady, Marc C. Patterson, David M. Rapoport, Alfred Slonim, Carolyn T. SpencerCynthia J. Tifft, Michael S. Watson

Research output: Contribution to journalReview article

338 Scopus citations
Original languageEnglish (US)
Pages (from-to)267-288
Number of pages22
JournalGenetics in Medicine
Volume8
Issue number5
DOIs
StatePublished - May 1 2006

Keywords

  • Acid maltase deficiency
  • Disease type II
  • Glycogen storage
  • Lysosomal storage disease
  • Management guidelines
  • Pompe disease

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Kishnani, P. S., Steiner, R. D., Bali, D., Berger, K., Byrne, B. J., Case, L., Crowley, J. F., Downs, S., Howell, R. R., Kravitz, R. M., Mackey, J., Marsden, D., Martins, A. M., Millington, D. S., Nicolino, M., O'Grady, G., Patterson, M. C., Rapoport, D. M., Slonim, A., ... Watson, M. S. (2006). Pompe disease diagnosis and management guideline. Genetics in Medicine, 8(5), 267-288. https://doi.org/10.1097/01.gim.0000218152.87434.f3