P374: A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric aciduria III

by Erin Huggins, David Jackson, Priya Kishnani
Published 2024-01-01

P020: Use of growth hormone in a patient with glycogen storage disease Ia: A cautionary tale

by David Jackson, Rebecca Koch, Priya Kishnani
Published 2023-01-01

Popliteal Nerve Block as an Alternative to Spinal Anaesthesia for Ankle Surgery in Comorbid Patient- A Case Report

by Priya Kishnani, Dharmishthaben Chakaran, Jigisha Mehta, Malini Mehta
Published 2021-04-01

Anaesthetic Management of a Patient with Myasthenia Gravis Posted for Tonsillectomy- A Case Report

by DINESH K CHAUHAN, VIBHAKAR VASUDEVA, POOJA SHAH, PRIYA KISHNANI
Published 2021-06-01

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

by Elizabeth O. Stenger, Zoheb Kazi, Emily Lisi, Michael J. Gambello, Priya Kishnani
Published 2015-09-01

Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa

by Chris Carter, Tracy Boggs, Laura E. Case, Laura E. Case, Priya Kishnani
Published 2024-01-01

P173: Establishing preclinical efficacy for the first AAV gene therapy for GSD IX γ2 across stages of progressive liver disease

by Rebecca Gibson, Jeong-A Lim, Su Jin Choi, Neha Jumani, Deeksha Bali, Sarah Young, William Jeck, Baodong Sun, Aravind Asokan, Priya Kishnani
Published 2023-01-01

P494: An analysis of ALPL gene variants in patients with hypophosphatasia from the Global Hypophosphatasia Registry

by Priya Kishnani, Kathryn Dahir, Gabriel Martos-Moreno, Agnès Linglart, Anna Petryk, William Mowrey, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried
Published 2023-01-01

P029: Early treatment with alglucosidase alfa is associated with improved survival in patients with infantile-onset Pompe disease: Data from Pompe Registry

by Priya Kishnani, David Stockton, Andreas Hahn, Juan Llerena, Alexander Broomfield, Julie Batista, Meredith Foster, Kathryn Wilson, Susan Sparks, Hannerieke van den Hout, Yin-Hsiu Chien
Published 2024-01-01

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 storage disease...

by Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, Akihiro Asai
Published 2024-06-01

P028: Switching treatment to cipaglucosidase alfa+miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease

by Priya Kishnani, Barry Byrne, Kristl Claeys, Paula Clemens, Jordi Díaz-Manera, Mazen Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Antonio Toscano, Noemi Hummel, Fred Holdbrook, Simon Shohet, Benedikt Schoser
Published 2024-01-01

P021: Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory and non-ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

by Priya Kishnani, Benedikt Schoser, Drago Bratkovic, Paula Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar, Ans van der Ploeg, Mitchell Goldman, Jacquelyn Wright, Fred Holdbrook, Vipul Jain, Sheela Sitaraman Das, Yasmine Wasfi, Tahseen Mozaffar, Barry Byrne
Published 2023-01-01

O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

by Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani
Published 2023-01-01