PriyaKishnaniMD

PubMed

• Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen st...
  Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Jennifer Kasten, Bali Deeksha, Mingxia Gu, Anas Bernieh, Chet Villa, Priya Kishnani, Akih...> ;Molecular Genetics and Metabolism Reports. 2024 Jun 1
• Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.
  Priya S Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lotha...> ;Orphanet Journal of Rare Diseases. 2024 Mar 8
• 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
  Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, Barry J Byrne, Kristl G Claeys, Jordi Díaz-Manera, Pascal Laforêt, Mark Roberts, Antonio Toscano, Ans T van der Pl...> ;Journal of Neurology. 2024 Feb 28
• 1 citations
  Underrepresentation of Diverse Ancestries Drives Uncertainty in Genetic Variants Found in Cardiomyopathy-Associated Genes.
  Michael B Rosamilia, Alexandra M Markunas, Priya S Kishnani, Andrew P Landstrom> ;JACC. Advances. 2024 Feb 1
• Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data.
  Shohet, S., Raza, S., Hummel, N., Castelli, J., Sitaraman Das, S., Jiang, H., Kopiec, A., Keyzor, I., Hahn, A., Kishnani, P.> ;Journal of Patient-Reported Outcomes. 2024 Jan 31
• An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation.
  Ankit K Desai, Garima Shrivastava, Christina L Grant, Raymond Y Wang, Trevor D Burt, Priya S Kishnani> ;Frontiers in Immunology. 2024 Jan 1
• Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.
  Carter, C., Boggs, T., Case, L., Kishnani, P.> ;Frontiers in Genetics. 2024 Jan 1
• Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucos...
  Toscano, A., Pollissard, L., Msihid, J., van der Beek, N., DasMahapatra, P., Thibault, N., Zhou, T., Haack, K., Schoser, B., Kishnani, P., Dimachkie, M., Berger, K., H...> ;Molecular Genetics and Metabolism. 2024 Feb 1
• 1 citations
  Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
  Korlimarla, A., Nichting, G., Jung, S., Sun, A., Wang, R., Al Shamsi, A., Owens, J., Kenney-Jung, D., Spiridigliozzi, G., Wiggins, W., Malinzak, M., Phornphutkul, C., ...> ;Molecular Genetics and Metabolism. 2024 Feb 1
• 2 citations
  Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).
  Barry J Byrne, Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, Paula R Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar...> ;Journal of Neurology. 2024 Apr 1
• Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
  Kishnani, P., Kronn, D., Suwazono, S., Broomfield, A., Llerena, J., Al-Hassnan, Z., Batista, J., Wilson, K., Periquet, M., Daba, N., Hahn, A., Chien, Y.> ;Orphanet Journal of Rare Diseases. 2023 Dec 6
• 2 citations
  Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
  Akos Herzeg, Beltran Borges, Billie R Lianoglou, Juan Gonzalez-Velez, Emma Canepa, Dane Munar, Sarah P Young, Deeksha Bali, Michel H Gelb, Pranesh Chakraborty, Priya S...> ;Prenatal Diagnosis. 2023 Dec 1
• 1 citations
  The Global ALPL gene variant classification project: Dedicated to deciphering variants.
  Mariam R Farman, Catherine Rehder, Theodora Malli, Cheryl Rockman-Greenberg, Kathryn Dahir, Gabriel Ángel Martos-Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried...> ;Bone. 2024 Jan 1
• Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.
  Stephanie L Santoro, Carolyn H Baloh, Sarah J Hart, Nora Horick, Priya S Kishnani, Kavita Krell, Nicolas M Oreskovic, Mikayla Shaffer, Nasreen Talib, Amy Torres, Gail ...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Dec 1
• Glycogen storage diseases.
  William B Hannah, Terry G J Derks, Mitchell L Drumm, Sarah C Grünert, Priya S Kishnani, John Vissing> ;Nature Reviews. Disease Primers. 2023 Sep 7
• Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.
  David G Jackson, Laura E Case, Erin Huggins, Maggie Holland, Janet Blount, Lisa Hobson Webb, Priya S Kishnani> ;Molecular Genetics and Metabolism Reports. 2023 Sep 1
• 2 citations
  Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement ...
  Katherine H Kim, Ankit K Desai, Erika R Vucko, Tracy Boggs, Priya S Kishnani, Barbara K Burton> ;Molecular Genetics and Metabolism Reports. 2023 Sep 1
• 1 citations
  Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy.
  David G Jackson, Rebecca L Koch, Surekha Pendyal, Robert Benjamin, Priya S Kishnani> ;JIMD Reports. 2023 Sep 1
• Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.
  William B Hannah, Laura E Case, Edward C Smith, Crista Walters, Deeksha Bali, Priya S Kishnani, Dwight D Koeberl> ;JIMD Reports. 2023 Sep 1
• 3 citations
  Gene therapy for glycogen storage diseases.
  Dwight D Koeberl, Rebecca L Koch, Jeong-A Lim, Elizabeth D Brooks, Benjamin D Arnson, Baodong Sun, Priya S Kishnani> ;Journal of Inherited Metabolic Disease. 2024 Jan 1
• An exploratory study of plasma ceramides in comorbidities in Down syndrome.
  Gordon Worley, Seul Kee Byeon, P Brian Smith, Sarah J Hart, Sarah P Young, Akhilesh Pandey, Priya S Kishnani> ;American Journal of Medical Genetics. Part A. 2023 Sep 1
• 1 citations
  Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures.
  Amy T Neel, Kelly D Crisp, Priya S Kishnani, Harrison N Jones> ;American Journal of Speech-Language Pathology. 2023 Jul 10
• The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substr...
  Pramod K Mistry, Priya S Kishnani, Manisha Balwani, Joel M Charrow, Judy Hull, Neal J Weinreb, Timothy M Cox> ;Journal of Clinical Medicine. 2023 May 4
• 7 citations
  Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
  Priya S Kishnani, Jordi Diaz-Manera, Antonio Toscano, Paula R Clemens, Shafeeq Ladha, Kenneth I Berger, Hani Kushlaf, Volker Straub, Gerson Carvalho, Tahseen Mozaffar,...> ;JAMA Neurology. 2023 Jun 1
• 2 citations
  Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pomp...
  Su Jin Choi, John S Yi, Jeong-A Lim, Thomas F Tedder, Dwight D Koeberl, William Jeck, Ankit K Desai, Amy Rosenberg, Baodong Sun, Priya S Kishnani> ;The Journal of Gene Medicine. 2023 Aug 1
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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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
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