Priya Sunil Kishnani

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. ncbi request reprint Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease
    P S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Box 3528, Duke University Medical Center, Durham, NC 27710, USA
    Neurology 68:99-109. 2007
  2. ncbi request reprint 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
    P S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103856 DUMC, 595 LaSalle St, GSRB1, 4th Floor, Durham, NC 27710, USA
    Mol Genet Metab 96:164-70. 2009
  3. ncbi request reprint Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry
    Priya S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103856 DUMC, 4th Floor GSRBI, 595 LaSalle Street, Durham, NC 22710, USA Electronic address
    Mol Genet Metab 113:84-91. 2014
  4. ncbi request reprint The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
    Erin J Feeney
    Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Acta Neuropathol Commun 2:2. 2014
  5. pmc Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
    Priya S Kishnani
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Box 103856 DUMC, 4th Floor GSRBI, 595 LaSalle Street, Durham, NC 27710, USA
    Mol Genet Metab 99:26-33. 2010
  6. ncbi request reprint The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 149:1641-54. 2009
  7. pmc Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Pediatr Res 66:329-35. 2009
  8. ncbi request reprint Glycogen storage disease type III diagnosis and management guidelines
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    Genet Med 12:446-63. 2010
  9. pmc Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
    Priya Sunil Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    J Pediatr 149:89-97. 2006
  10. ncbi request reprint A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    Priya S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    J Pediatr 148:671-676. 2006

Collaborators

Detail Information

Publications25

  1. ncbi request reprint Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease
    P S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Box 3528, Duke University Medical Center, Durham, NC 27710, USA
    Neurology 68:99-109. 2007
    ..The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe disease...
  2. ncbi request reprint 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
    P S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103856 DUMC, 595 LaSalle St, GSRB1, 4th Floor, Durham, NC 27710, USA
    Mol Genet Metab 96:164-70. 2009
    ..Continued monitoring in patients treated with Q4 dosing is required to assess long-term effectiveness...
  3. ncbi request reprint Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry
    Priya S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103856 DUMC, 4th Floor GSRBI, 595 LaSalle Street, Durham, NC 22710, USA Electronic address
    Mol Genet Metab 113:84-91. 2014
    ..The increased use of blood-based assays for diagnosis may result in a more timely diagnosis in patients across the clinical spectrum of Pompe disease...
  4. ncbi request reprint The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
    Erin J Feeney
    Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Acta Neuropathol Commun 2:2. 2014
    ..In this study, we examined the clinical status and muscle pathology of 22 LOPD patients and one atypical infantile patient on ERT to understand the reasons for muscle resistance to ERT...
  5. pmc Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
    Priya S Kishnani
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Box 103856 DUMC, 4th Floor GSRBI, 595 LaSalle Street, Durham, NC 27710, USA
    Mol Genet Metab 99:26-33. 2010
    ..The effect of CRIM status on outcome appears to be mediated by antibody responses to the exogenous protein...
  6. ncbi request reprint The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 149:1641-54. 2009
    ..Outcomes in post hoc analyses suggested efficacy in some, but not all subjects, consistent with phenotypic variability of DS. Additional studies are required to confirm potential benefits of donepezil in this population...
  7. pmc Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Pediatr Res 66:329-35. 2009
    ..Overall, long-term alglucosidase alpha treatment markedly extended survival as well as ventilation-free survival and improved cardiomyopathy...
  8. ncbi request reprint Glycogen storage disease type III diagnosis and management guidelines
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    Genet Med 12:446-63. 2010
    ..This guideline for the management of glycogen storage disease type III was developed as an educational resource for health care providers to facilitate prompt and accurate diagnosis and appropriate management of patients...
  9. pmc Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
    Priya Sunil Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    J Pediatr 149:89-97. 2006
    ..To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid alpha-glucosidase (rhGAA) in treatment of infantile-onset Pompe disease...
  10. ncbi request reprint A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    Priya S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    J Pediatr 148:671-676. 2006
    ..To characterize the natural progression of infantile-onset Pompe disease...
  11. ncbi request reprint Nutritional deficiencies in a patient with glycogen storage disease type Ib
    P S Kishnani
    Duke University Medical Center, Department of Pediatrics, Durham, North Carolina 27710, USA
    J Inherit Metab Dis 22:795-801. 1999
    ..This case also illustrates the importance of daily supplementation with appropriate multivitamins, calcium and other minerals needed to meet the Recommended Dietary Allowances (RDAs) in these patients...
  12. ncbi request reprint Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia)
    P S Kishnani
    Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Vet Pathol 38:83-91. 2001
    ....
  13. ncbi request reprint Hypovitaminosis D in glycogen storage disease type I
    Suhrad G Banugaria
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Mol Genet Metab 99:434-7. 2010
    ..Our results suggest that measurement of 25(OH)D should be considered in the routine evaluation of GSD I patients...
  14. ncbi request reprint Pompe disease in infants and children
    Priya Sunil Kishnani
    Division of Medical Genetics Department of Pediatrics, Duke University Medical School, Durham, North Carolina 27710, USA
    J Pediatr 144:S35-43. 2004
  15. ncbi request reprint The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management
    Priya S Kishnani
    DUMC, Durham, NC 27710, USA
    Am J Med Genet C Semin Med Genet 160:1-7. 2012
    ..Many gaps in our scientific understanding of this disease still remain; however, we hope the next decade will bring new knowledge and therapies to the horizon...
  16. ncbi request reprint Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17
    Priya S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 152:3028-35. 2010
    ..0001), with no significant between-group differences. This trial failed to demonstrate any benefit for donepezil versus placebo in children and adolescents with DS, although donepezil appeared to be well tolerated...
  17. ncbi request reprint Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
    D D Koeberl
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Inherit Metab Dis 26:25-35. 2003
    ..Long-term follow-up is needed to determine the outcome of presymptomatically diagnosed patients with 3-MCC deficiency by MS/MS newborn screening...
  18. pmc Glycogen storage disease types I and II: treatment updates
    D D Koeberl
    Division of Medical Genetics Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    J Inherit Metab Dis 30:159-64. 2007
    ..Furthermore, the development of experimental therapies, such as adeno-associated virus (AAV) vector-mediated gene therapy, holds promise for the availability of curative therapy in GSD I and GSD II/Pompe disease in the future...
  19. pmc Immunomodulatory gene therapy in lysosomal storage disorders
    Dwight D Koeberl
    Division of Medical Genetics Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Curr Gene Ther 9:503-10. 2009
    ..Immunomodulatory gene therapy with a very low vector dose could enhance the efficacy of enzyme therapy in Pompe disease and other lysosomal storage disorders...
  20. ncbi request reprint Emerging therapies for glycogen storage disease type I
    D D Koeberl
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Trends Endocrinol Metab 20:252-8. 2009
    ..These advances will benefit patients with GSD I in the future, improving both quality of life and survival, as well as illuminating the molecular effects of altered metabolism upon multiple organ systems...
  21. ncbi request reprint Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia
    P S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Biochem Mol Med 61:168-77. 1997
    ..The establishment of a breeding colony of this dog strain will facilitate studies on the role of G-6-Pase gene in glucose homeostasis, in pathophysiology of disease, and development of novel therapeutic approaches such as gene therapy...
  22. ncbi request reprint Hepatocellular carcinoma in glycogen storage disease type Ia: a case series
    L M Franco
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Inherit Metab Dis 28:153-62. 2005
    ..Aggressive interventional management of masses with rapid growth or poorly defined margins may be necessary to prevent the development of HCC in this patient population...
  23. ncbi request reprint Physical therapy management of Pompe disease
    Laura Elizabeth Case
    Division of Physical Therapy, Department of Community and Family Medicine, School of Medicine, Duke University Medical Center, Durham, NC 27707, USA
    Genet Med 8:318-27. 2006
    ..This article reviews current knowledge regarding the motor system in Pompe disease and provides an overview of physical therapy management of Pompe disease, including management strategies for individuals on enzyme replacement therapy...
  24. ncbi request reprint Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype
    R Hanna
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    J Inherit Metab Dis 27:687-90. 2004
    ..The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling...
  25. ncbi request reprint Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency
    V Krishnamurthy
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    J Inherit Metab Dis 30:819. 2007
    ..The experience with multiple pregnancies in this FBPase-deficient patient provides insight into the management of hypoglycaemia in inherited disorders of gluconeogenesis...