Priya S Kishnani (Priya Kishnani)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 20

Top Topics

Replacement Therapy

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

Orphanet journal of rare diseases

American journal of hematology

This page only lists publications with an associated author ORCID identifier.

Publications

Pramod K Mistry, Manisha Balwani, Joel Charrow, Jeremy Lorber, Claus Niederau, Jenny L Carwile, Antonio Oliveira-Dos-Santos, Maria Gabriela Perichon, Sefika Uslu Cil, Priya S Kishnani
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. American journal of hematology 99 (8) (2024)
Priya S Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M Dahir
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry. Orphanet journal of rare diseases 19 (1) (2024)
Pramod K Mistry, Manisha Balwani, Joel Charrow, Jeremy Lorber, Claus Niederau, Jenny L Carwile, Antonio Oliveira-Dos-Santos, Maria Gabriela Perichon, Sefika Uslu Cil, Priya S Kishnani
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. American journal of hematology (2024)
Pramod K Mistry, Manisha Balwani, Joel Charrow, Jeremy Lorber, Claus Niederau, Jenny L Carwile, Antonio Oliveira-Dos-Santos, Maria Gabriela Perichon, Sefika Uslu Cil, Priya S Kishnani
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. American journal of hematology 99 (8) (2024)
Priya S Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M Dahir
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry. Orphanet journal of rare diseases 19 (1) (2024)
Priya S Kishnani, Lothar Seefried, Kathryn McCrystal Dahir, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, William R Mowrey, Shona Fang, Keiichi Ozono, Wolfgang Högler, Cheryl Rockman-Greenberg
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry. American journal of medical genetics. Part A (2024)
Priya S Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M Dahir
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry. Orphanet journal of rare diseases 19 (1) (2024)
David G Jackson, Rebecca L Koch, Surekha Pendyal, Robert Benjamin, Priya S Kishnani
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy. JIMD reports 64 (5) (2023)
Amy T Neel, Kelly D Crisp, Priya S Kishnani, Harrison N Jones
Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures. American journal of speech-language pathology (2023)
Priya S Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L Batista, Kathryn M Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin-Hsiu Chien
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry. Orphanet journal of rare diseases 18 (1) (2023)
William B Hannah, Terry G J Derks, Mitchell L Drumm, Sarah C Grünert, Priya S Kishnani, John Vissing
Glycogen storage diseases. Nature reviews. Disease primers 9 (1) (2023)
Cindy Li, Ankit K Desai, Punita Gupta, Katherine Dempsey, Vikas Bhambhani, Robert J Hopkin, Can Ficicioglu, Pranoot Tanpaiboon, William J Craigen, Amy S Rosenberg, Priya S Kishnani
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genetics in medicine : official journal of the American College of Medical Genetics 23 (5) (2021)
Jason Wang, Chris J Zhou, Alastair Khodabukus, Sabrina Tran, Sang-Oh Han, Aaron L Carlson, Lauran Madden, Priya S Kishnani, Dwight D Koeberl, Nenad Bursac
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease. Communications biology 4 (1) (2021)
Sarah P Young, Aleena A Khan, Stephanie L Austin, Priya S Kishnani
Response to Heiner-Fokkema et al. Genetics in medicine : official journal of the American College of Medical Genetics 22 (11) (2020)
Samuela A Fernandes, Aleena A Khan, Tracy Boggs, Michael Bowling, Stephanie Austin, Mihaela Stefanescu, Laura Case, Priya S Kishnani
Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease. JIMD reports 57 (1) (2020)
Aleena A Khan, Laura E Case, Mrudu Herbert, Stephanie DeArmey, Harrison Jones, Kelly Crisp, Kanecia Zimmerman, Mai K ElMallah, Sarah P Young, Priya S Kishnani
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Genetics in medicine : official journal of the American College of Medical Genetics 22 (5) (2020)
Priya S Kishnani, James B Gibson, Michael J Gambello, Richard Hillman, David W Stockton, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon, John W Day, Raymond Y Wang, Jennifer L Goldstein, Kristina An Haack, Susan E Sparks, Yang Zhao, Si Houn Hahn, null null
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Carine A Halaby, Sarah P Young, Stephanie Austin, Ela Stefanescu, Deeksha Bali, Lani K Clinton, Brian Smith, Surekha Pendyal, Jariya Upadia, Gary R Schooler, Alisha M Mavis, Priya S Kishnani
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Sarah J Hart, Kanecia O Zimmerman, Corinne M Linardic, Sheila Cannon, Pastore Anna, Vasiliki Patsiogiannis, Paolo Rossi, Stephanie L Santoro, Brian G Skotko, Amy Torres, Diletta Valentini, Kishore Vellody, Gordon Worley, Priya S Kishnani
Detection of iron deficiency in children with Down syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)
Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, Blythe Crissman, Emily Davidson, Jose C Florez, Priya S Kishnani, Angela Lombardo, Jordan Lyerly, Mary Ellen McDonough, Alison Schwartz, Kathryn Berrier, Susan Sparks, Kara Stock-Guild, Tomi L Toler, Kishore Vellody, Lauren Voelz, Brian G Skotko
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. American journal of medical genetics. Part A 173 (6) (2017)