The emerging phenotype of late-onset Pompe disease: A systematic literature review J Chan, AK Desai, ZB Kazi, K Corey, S Austin, LD Hobson-Webb, ... Molecular genetics and metabolism 120 (3), 163-172, 2017 | 193 | 2017 |
Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease ZB Kazi, AK Desai, KL Berrier, RB Troxler, RY Wang, OA Abdul-Rahman, ... JCI insight 2 (16), 2017 | 59 | 2017 |
Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review AK Desai, C Li, AS Rosenberg, PS Kishnani Annals of Translational Medicine 7 (13), 2019 | 49 | 2019 |
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and … C Li, AK Desai, P Gupta, K Dempsey, V Bhambhani, RJ Hopkin, ... Genetics in Medicine 23 (5), 845-855, 2021 | 37 | 2021 |
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy AK Desai, ZB Kazi, DS Bali, PS Kishnani Molecular Genetics and Metabolism Reports 20, 100475, 2019 | 32 | 2019 |
An immune tolerance approach using transient low-dose methotrexate in the ERT-naive setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe … ZB Kazi, AK Desai, RB Troxler, D Kronn, S Packman, M Sabbadini, ... Genetics in Medicine 21 (4), 887-895, 2019 | 31 | 2019 |
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T> G “late-onset” GAA variant MV Rairikar, LE Case, LA Bailey, ZB Kazi, AK Desai, KL Berrier, J Coats, ... Molecular genetics and metabolism 122 (3), 99-107, 2017 | 30 | 2017 |
Benefits of prophylactic short-course immune tolerance induction in patients with infantile Pompe disease: demonstration of long-term safety and efficacy in an expanded cohort AK Desai, CH Baloh, JW Sleasman, AS Rosenberg, PS Kishnani Frontiers in Immunology 11, 530017, 2020 | 28 | 2020 |
HLA-and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA) AS De Groot, ZB Kazi, RF Martin, FE Terry, AK Desai, WD Martin, ... Clinical Immunology 200, 66-70, 2019 | 19 | 2019 |
Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation AK Desai, CK Walters, HL Cope, ZB Kazi, SM DeArmey, PS Kishnani Molecular genetics and metabolism 123 (2), 92-96, 2018 | 18 | 2018 |
Immune tolerance-adjusted personalized immunogenicity prediction for pompe disease AS De Groot, AK Desai, S Lelias, SMS Miah, FE Terry, S Khan, C Li, JS Yi, ... Frontiers in Immunology 12, 636731, 2021 | 15 | 2021 |
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease DD Koeberl, LE Case, A Desai, EC Smith, C Walters, S Han, BL Thurberg, ... Molecular genetics and metabolism 129 (2), 67-72, 2020 | 13 | 2020 |
Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series MK ElMallah, AK Desai, EB Nading, S DeArmey, RM Kravitz, PS Kishnani Pediatric pulmonology 55 (3), 674-681, 2020 | 11 | 2020 |
Immune modulation for enzyme replacement therapy in a female patient with Hunter syndrome DC Julien, K Woolgar, L Pollard, H Miller, A Desai, K Lindstrom, ... Frontiers in Immunology 11, 1000, 2020 | 10 | 2020 |
High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient M Rairikar, ZB Kazi, A Desai, C Walters, A Rosenberg, PS Kishnani Molecular genetics and metabolism 122 (1-2), 76-79, 2017 | 10 | 2017 |
A race against time—changing the natural history of CRIM negative infantile Pompe disease P Gupta, BJ Shayota, AK Desai, F Kiblawi, D Myridakis, J Messina, P Tah, ... Frontiers in Immunology 11, 1929, 2020 | 8 | 2020 |
The potential impact of timing of IVIG administration on the efficacy of rituximab for immune tolerance induction for patients with Pompe disease AK Desai, AS Rosenberg, PS Kishnani Clinical Immunology 219, 108541, 2020 | 6 | 2020 |
Cross-reactive immunologic material positive infantile Ρompe disease: Characterization of immune responses in patient treated with enzyme replacement therapy AK Desai, ZB Kazi, PS Kishnani Molecular Genetics and Metabolism 2 (117), S41, 2016 | 4 | 2016 |
Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease AK Desai, PB Smith, JS Yi, AS Rosenberg, TD Burt, PS Kishnani Frontiers in Immunology 14, 1301912, 2024 | 3 | 2024 |
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 therapy KH Kim, AK Desai, ER Vucko, T Boggs, PS Kishnani, BK Burton Molecular Genetics and Metabolism Reports 36, 100981, 2023 | 3 | 2023 |