Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Ankit K. Desai"'
Autor:
Angie H. Fares, Ankit K. Desai, Laura E. Case, Cassie Sharon, Amy Klinepeter, Amelia Kirby, Matthew T. Lisi, Rebecca L. Koch, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101141- (2024)
Infantile-onset Pompe disease (IOPD) is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). It is characterized by severe and progressive hypertrophic cardiomyopathy and muscle weakness with death in the first 2 years of life if left u
Externí odkaz:
https://doaj.org/article/6ea6d9796f1448e0a4eef059199db424
Autor:
Hui-An Chen, Rai-Hseng Hsu, Ching-Ya Fang, Ankit K. Desai, Ni-Chung Lee, Wuh-Liang Hwu, Fuu-Jen Tsai, Priya S. Kishnani, Yin-Hsiu Chien
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionPompe disease, a lysosomal storage disorder, is characterized by acid α-glucosidase (GAA) deficiency and categorized into two main subtypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). The primary treatment,
Externí odkaz:
https://doaj.org/article/d580f3c7d33d45768fcfbe1d68b78034
Autor:
Ankit K. Desai, Garima Shrivastava, Christina L. Grant, Raymond Y. Wang, Trevor D. Burt, Priya S. Kishnani
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionHigh sustained anti-rhGAA antibody titers (HSAT; ≥12,800) are directly linked to reduced efficacy of enzyme replacement therapy (ERT) and subsequent clinical deterioration in infantile-onset Pompe disease (IOPD). We have previously demo
Externí odkaz:
https://doaj.org/article/feaa2ff9617e4639b0282d4875ed2de3
Autor:
Ankit K. Desai, P. Brian Smith, John S. Yi, Amy S. Rosenberg, Trevor D. Burt, Priya S. Kishnani
Publikováno v:
Frontiers in Immunology, Vol 14 (2024)
IntroductionThe efficacy of enzyme replacement therapy (ERT) with alglucosidase alfa for infantile-onset Pompe disease (IOPD) is limited in some patients due to the development of high and sustained antibody titers (HSAT; ≥12,800).MethodsWe carried
Externí odkaz:
https://doaj.org/article/ec2469dc10d54eddb7249c22c74a9079
Autor:
Katherine H. Kim, Ankit K. Desai, Erika R. Vucko, Tracy Boggs, Priya S. Kishnani, Barbara K. Burton
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100981- (2023)
A late-onset Pompe disease patient developed high sustained antibody titers (HSAT) of ≥51,200 after 11+ years on alglucosidase alfa and previous tolerance. There was a corresponding worsening of motor function and rise in urinary glucose tetrasacch
Externí odkaz:
https://doaj.org/article/a4e5cd8daf564e5ba10738d304447e3f
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100893- (2022)
Infantile onset Pompe disease (IOPD) is a rare devastating disease that presents in early infancy with rapidly progressive hypertrophic cardiomyopathy, severe generalized myopathy and death within the first year of life. The emergence of enzyme repla
Externí odkaz:
https://doaj.org/article/a9f869d8a0744b229b6f4b410c6c5558
Autor:
Anne S. De Groot, Ankit K. Desai, Sandra Lelias, S. M. Shahjahan Miah, Frances E. Terry, Sundos Khan, Cindy Li, John S. Yi, Matt Ardito, William D. Martin, Priya S. Kishnani
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Infantile-onset Pompe disease (IOPD) is a glycogen storage disease caused by a deficiency of acid alpha-glucosidase (GAA). Treatment with recombinant human GAA (rhGAA, alglucosidase alfa) enzyme replacement therapy (ERT) significantly improves clinic
Externí odkaz:
https://doaj.org/article/636a267fdb6547b782098eb295426546
Autor:
Punita Gupta, Brian J. Shayota, Ankit K. Desai, Fuad Kiblawi, Dorothy Myridakis, John Messina, Peter Tah, Lorien Tambini-King, Priya S. Kishnani
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
We report the clinical course of the first prenatally diagnosed cross-reactive immunologic material (CRIM)-negative infantile Pompe disease (IPD) patient [homozygous for c.2560C>T (p.Arg854X) variant in the GAA gene] to undergo prophylactic immune to
Externí odkaz:
https://doaj.org/article/8a660e726453408cb2300af7ff3651c5
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Immune tolerance induction (ITI) with a short-course of rituximab, methotrexate, and/or IVIG in the enzyme replacement therapy (ERT)-naïve setting has prolonged survival and improved clinical outcomes in patients with infantile Pompe disease (IPD) l
Externí odkaz:
https://doaj.org/article/fbf3bf99db7b43d297804966c991cb7a
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Enzyme replacement therapy (ERT) with rhGAA has improved clinical outcomes in infantile Pompe disease (IPD). A subset of CRIM-positive IPD patients develop high and sustained antibody titers (HSAT; ≥51,200) and/or sustained intermediate titer (SIT;
Externí odkaz:
https://doaj.org/article/67f6e789158e4b5ca97fe92f9d7dc9e8