Priya Kishnani MD

PubMed

• Revisiting the Genetics of Hypophosphatasia.
  Priya S Kishnani, Catherine Rehder, Keiichi Ozono, Jordi Pérez-López, Guillermo Del Angel
  Journal of Inherited Metabolic Disease. 2025-11-01
• Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.
  Myriam Boueri, Allison Paltzer, Erin Huggins, Ellen Linebaugh, Debera Zvejnieks
  Pediatric Neurology. 2025-11-01
• The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treate...
  David Kronn, James Davison, Alexander Broomfield, Anaïs Brassier, François Labarthe
  The Journal of Pediatrics. 2025-10-01

Journal Articles

• Case Report Corticobasal Syndrome in a Man with Gaucher Disease Type 1: Expansion of the Understanding of the Neurological Spectrum  
  Priya S Kishnani, Jeffrey W Cooney, Roy N Alcalay, Stephanie M DeArmey, ScienceDirect
• Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers  
  Chiu LY, Kishnani PS, Chuang TP, Tang CY, Liu CY, Bali D, Koeberl D, Austin S, Boyette K, Weinstein DA, Murphy E, Yao A, Chen YT, Li LH, J Gastroenterol, 10/16/2013
• Pompe Registry Boards of Advisors Timing of diagnosis of patients with pompe disease: Data from the pompe registry  
  Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J, Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J, 10/2/2013
• Letter to the Editors: Concerning “CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy” by Al Khallaf et al  
  Prater SN, Banugaria SG, Morgan C, Sung CC, Rosenberg AS, Kishnani PS, J Inherit Metab Dis, 7/26/2013
• Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy  
  Prater, SN, Patel, TT, Buckley, AF, Mandel H, Vlodavski, E, Banugaria SG, Feeney EF, Raben, N, Kishnani PS, OJRD, 6/1/2013
• Oropharyngeal dysphagia many occur in late-onset Pompe disease, implicating bulbar muscle involvement  
  Hobson-Webb LD, Jones HN, Kishnani PS, Neuromuscul Disord, 4/1/2013
• Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy  
  Spiridigliozzi GA, Heller JH, Kishnani PS, Van der Ploeg AT, Ebbink BJ, Aarsen FK, van Gelder CM, Van den Hout JM, Neurology, 3/1/2013
• Response to the letter “How to describe the clinical spectrum in Pompe disease?”  
  Beckemeyer AA, Mendelsohn NJ, Kishnani, PS, Am J Med Genet A, 2/1/2013
• Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome  
  Tolun AA, Scarbrough PM, Zhang H, McKillop JA, Wang F, Kishnani PS, Millington DS, Young SP, Il’yasova D, Ann Epidemiol, 10/10/2012
• Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature  
  Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS, Mol Genet Metab, 8/1/2012
• Fracture burden in adults with hypophosphatasia  
  Whyte M, Greenberg C, Kishnani P, Lim V, Case L, Mayhew J, Kreher N, Skrinar A, Bull Group Int Rech Sci Stomatol Odontol, 7/30/2012
• Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to t...  
  Banugaria SG, Patel TT, Mackey J, Das S, Amalfitano A, Rosenberg AS, Charrow J, Chen YT, Kishnani PS, Mol Genet Metab, 4/1/2012
• Early cognitive development in children with infantile Pompe disease  
  Spiridigliozzi GA, Heller JH, Case LE, Jones HN, Kishnani PS, Mol Genet Metab, 3/1/2012
• The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management  
  Kishnani PS, Beckemeyer AA, Mendelsohn NJ, Am J Med Genet C Semin Med Genet, 2/15/2012
• Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations  
  Case LE, Beckemeyer AA, Kishnani PS, Am J Med Genet C Semin Med Genet, 2/15/2012
• Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques  
  Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS, Am J Med Genet C Semin Med Genet, 2/15/2012
• How Common is misdiagnosis in late-onset Pompe disease?  
  Hobson-Webb LD, Kishnani PS, Muscle Nerve, 2/1/2012
• The Clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings  
  Hobson-Webb LD, Dearmey S, Kishnani PS, Clin Neurophysiol, 11/1/2011
• An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions  
  El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinnell SG, Malovrh P, Conway R, Kishnani PS, Mol Genet Metab, 9/1/2011
• The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease  
  Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, Chen YT, Rosenberg AS, Kishnani PS, Genet Med, 8/1/2011
• ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals  
  Wang RY, Bodamer OA, Watson MS, Wilcox WR, Genet Med, 5/1/2011
• Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy  
  Barker PC, Pasquali SK, Darty S, Ing RJ, Li JS, Kim RJ, DeArmey S, Kishnani PS, Campbell MJ, Mol Genet Metab, 12/1/2010
• Oropharyngeal dysphagia in infants and children with infantile Pompe disease  
  Jones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, O’Grady G, Heller JH, Kishnani PS, Dysphagia, 12/1/2010
• The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome  
  Yanovitch T, Wallace DK, Freedman SF, Enyedi LB, Kishnani PS, Worley G, Crissman B, Burner E, Young TL, J AAPOS, 12/1/2010
• Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III  
  Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS, Genet Med, 7/1/2010
• Join now to see all