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Priya S. Kishnani

Priya S. Kishnani

D-Index & Metrics

Medicine

D-Index
84
Citations
25395
World Ranking
15120
National Ranking
7637

Overview

Priya S. Kishnani is affiliated with Duke University in the United States and has a research focus predominantly in the fields of Medicine and Biochemistry, Genetics, and Molecular Biology. Their work spans several subfields including Physiology, Rheumatology, Molecular Biology, Genetics, and Psychiatry and Mental Health.

The scientist's research topics cover areas such as Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Biochemical and Molecular Research, Child Nutrition and Feeding Issues, Carbohydrate Chemistry and Synthesis, Genetics and Neurodevelopmental Disorders, and Alkaline Phosphatase Research Studies.

Some of the recent publications include:

  • "Targeted long-read sequencing identifies missing disease-causing variation," 2021, The American Journal of Human Genetics
  • "Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial," 2021, The Lancet Neurology
  • "Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial," 2021, The Lancet Neurology
  • "In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease," 2022, New England Journal of Medicine
  • "Further understanding the connection between Alzheimer's disease and Down syndrome," 2020, Alzheimer s & Dementia

Frequent collaborators in their research include Benedikt Schoser, Tahseen Mozaffar, Kristina An Haack, Barry J. Byrne, and Mazen M. Dimachkie. These coauthors have contributed significantly to the scientist's publication record, indicating a collaborative research environment.

Their work is often published in specialized journals and venues such as Molecular Genetics and Metabolism, Molecular Genetics and Metabolism Reports, Genetics in Medicine Open, Neuromuscular Disorders, and Neurology. These venues reflect the focus on genetic and metabolic diseases and neurological conditions.

Best Publications

  • Recombinant human acid α-glucosidase Major clinical benefits in infantile-onset Pompe disease

    P. S. Kishnani;D. Corzo;M. Nicolino;B. Byrne

  • A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

    Ans T. van der Ploeg;Paula R. Clemens;Deyanira Corzo;Diana M. Escolar

  • Pompe disease diagnosis and management guideline

    Priya S Kishnani;Robert D Steiner;Deeksha Bali;Kenneth Berger

  • A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

    Priya S. Kishnani;Wuh-Liang Hwu;Hanna Mandel;Marc Nicolino

  • Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.

    Andrea Amalfitano;A. Resai Bengur;Richard P. Morse;Joseph M. Majure

  • Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

    Priya S. Kishnani;Paula C. Goldenberg;Stephanie L. Dearmey;James Heller

  • Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

    Priya S. Kishnani;Stephanie L. Austin;Jose E. Abdenur;Pamela Arn

  • Whole-Brain Irradiation and Decline in Intelligence: The Influence of Dose and Age on IQ Score

    Jeffrey H. Silber;Jerilynn Radcliffe;Virginia Peckham;Giorgio Perilongo

  • Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

    Marc Nicolino;Barry Byrne;J. E. Wraith;Nancy Leslie

  • CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α-GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

    Priya Sunil Kishnani;Marc Nicolino;Thomas Voit;R. Curtis Rogers

  • Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.

    Beth L. Thurberg;Colleen Lynch Maloney;Charles Vaccaro;Kendra Afonso

  • Pompe disease in infants and children

    Priya Sunil Kishnani;R.Rodney Howell

  • Glycogen Storage Disease Type III diagnosis and management guidelines

    Priya S. Kishnani;Stephanie L. Austin;Pamela Arn;Deeksha S. Bali

  • Early Treatment with Alglucosidase Alfa Prolongs Long Term Survival of Infants with Pompe Disease

    Priya S. Kishnani;Deya Corzo;Nancy D. Leslie;Daniel Gruskin

  • Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

    L. M. Franco;V. Krishnamurthy;D. Bali;D. A. Weinstein

  • The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

    Suhrad G. Banugaria;Sean N. Prater;Yiu Ki Ng;Joyce A. Kobori

  • Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

    Yoav H. Messinger;Nancy J. Mendelsohn;William Rhead;David Dimmock

  • Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

    Yong Bao;Priya Kishnani;Jer Yuarn Wu;Yuan Tsong Chen

  • Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

    B. Winchester;D. Bali;O.A. Bodamer;C. Caillaud

  • Pompe disease: Design, methodology, and early findings from the Pompe Registry

    Barry J. Byrne;Priya S. Kishnani;Laura E. Case;Luciano Merlini

Frequent Co-Authors

Yuan-Tsong Chen
Yuan-Tsong Chen Harbor–UCLA Medical Center
Barry J. Byrne
Barry J. Byrne University of Florida
Jennifer S. Li
Jennifer S. Li Duke University
Benedikt Schoser
Benedikt Schoser Ludwig-Maximilians-Universität München
David S. Millington
David S. Millington Duke University
Michael P. Whyte
Michael P. Whyte Washington University in St. Louis
Luciano Merlini
Luciano Merlini University of Bologna
Richard J. Barohn
Richard J. Barohn University of Missouri
Daniel K. Benjamin
Daniel K. Benjamin Duke University
Andrea Amalfitano
Andrea Amalfitano Michigan State University

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