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Priya Sunil Kishnani

DUMC 103856

595 Lasalle Street


4th Floor


Name/email consistency: high



  • DUMC 103856, 595 Lasalle Street, GSRB 1, 4th Floor. 2012
  • Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, USA. 1999 - 2010


  1. The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Kishnani, P.S., Beckemeyer, A.A., Mendelsohn, N.J. Am. J. Med. Genet. C. Semin. Med. Genet (2012) [Pubmed]
  2. Hypovitaminosis D in glycogen storage disease type I. Banugaria, S.G., Austin, S.L., Boney, A., Weber, T.J., Kishnani, P.S. Mol. Genet. Metab. (2010) [Pubmed]
  3. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Kishnani, P.S., Goldenberg, P.C., DeArmey, S.L., Heller, J., Benjamin, D., Young, S., Bali, D., Smith, S.A., Li, J.S., Mandel, H., Koeberl, D., Rosenberg, A., Chen, Y.T. Mol. Genet. Metab. (2010) [Pubmed]
  4. Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17. Kishnani, P.S., Heller, J.H., Spiridigliozzi, G.A., Lott, I., Escobar, L., Richardson, S., Zhang, R., McRae, T. Am. J. Med. Genet. A (2010) [Pubmed]
  5. The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome. Kishnani, P.S., Sommer, B.R., Handen, B.L., Seltzer, B., Capone, G.T., Spiridigliozzi, G.A., Heller, J.H., Richardson, S., McRae, T. Am. J. Med. Genet. A (2009) [Pubmed]
  6. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Kishnani, P.S., Corzo, D., Leslie, N.D., Gruskin, D., Van der Ploeg, A., Clancy, J.P., Parini, R., Morin, G., Beck, M., Bauer, M.S., Jokic, M., Tsai, C.E., Tsai, B.W., Morgan, C., O'Meara, T., Richards, S., Tsao, E.C., Mandel, H. Pediatr. Res. (2009) [Pubmed]
  7. A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. Kishnani, P.S., DiRocco, M., Kaplan, P., Mehta, A., Pastores, G.M., Smith, S.E., Puga, A.C., Lemay, R.M., Weinreb, N.J. Mol. Genet. Metab. (2009) [Pubmed]
  8. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Kishnani, P.S., Corzo, D., Nicolino, M., Byrne, B., Mandel, H., Hwu, W.L., Leslie, N., Levine, J., Spencer, C., McDonald, M., Li, J., Dumontier, J., Halberthal, M., Chien, Y.H., Hopkin, R., Vijayaraghavan, S., Gruskin, D., Bartholomew, D., van der Ploeg, A., Clancy, J.P., Parini, R., Morin, G., Beck, M., De la Gastine, G.S., Jokic, M., Thurberg, B., Richards, S., Bali, D., Davison, M., Worden, M.A., Chen, Y.T., Wraith, J.E. Neurology (2007) [Pubmed]
  9. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. Kishnani, P.S., Hwu, W.L., Mandel, H., Nicolino, M., Yong, F., Corzo, D. J. Pediatr. (2006) [Pubmed]
  10. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. Kishnani, P.S., Nicolino, M., Voit, T., Rogers, R.C., Tsai, A.C., Waterson, J., Herman, G.E., Amalfitano, A., Thurberg, B.L., Richards, S., Davison, M., Corzo, D., Chen, Y.T. J. Pediatr. (2006) [Pubmed]
  11. Pompe disease in infants and children. Kishnani, P.S., Howell, R.R. J. Pediatr. (2004) [Pubmed]
  12. Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Kishnani, P.S., Faulkner, E., VanCamp, S., Jackson, M., Brown, T., Boney, A., Koeberl, D., Chen, Y.T. Vet. Pathol. (2001) [Pubmed]
  13. Nutritional deficiencies in a patient with glycogen storage disease type Ib. Kishnani, P.S., Boney, A., Chen, Y.T. J. Inherit. Metab. Dis. (1999) [Pubmed]
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