Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Sean N. Prater"'
Autor:
Baodong Sun, Suhrad G. Banugaria, Sean N. Prater, Trusha T. Patel, Keri Fredrickson, Douglas J. Ringler, Antonin de Fougerolles, Amy S. Rosenberg, Herman Waldmann, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 446-450 (2014)
Approximately 35–40% of patients with classic infantile Pompe disease treated with enzyme replacement therapy (ERT) develop high, sustained antibody titers against the therapeutic enzyme alglucosidase alfa, which abrogates the treatment efficacy. I
Externí odkaz:
https://doaj.org/article/e2218e4187334a8baee1035af47e2f37
Autor:
Renuka Gera, Carrie Bailey, Joyce A. Kobori, Paul McIntosh, Priya S. Kishnani, Amy S. Rosenberg, David W. Stockton, Sean N. Prater, Zoheb B. Kazi, David Viskochil
Publikováno v:
JCI Insight. 1
BACKGROUND. Enzyme replacement therapy (ERT) has prolonged survival and improved clinical outcomes in patients with infantile Pompe disease (IPD), a rapidly progressive neuromuscular disorder. Yet marked interindividual variability in response to ERT
Autor:
Erin M. Stege, Raymond Y. Wang, Priya S. Kishnani, Sean N. Prater, Suhrad G. Banugaria, Harrison N. Jones, Eleanor G. Botha, Stephanie DeArmey, Laura E. Case, Chanika Phornphutkul, Sarah P. Young
Publikováno v:
Genetics in Medicine. 14:800-810
Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. Inclusion criteria included v
Autor:
Alan D. Proia, Suhrad G. Banugaria, Priya S. Kishnani, Beth L. Thurberg, Lisa D. Hobson-Webb, Sean N. Prater
Publikováno v:
Molecular Genetics and Metabolism. 106:462-469
Background Late-onset Pompe disease (LOPD) is a rare cause of declining proximal muscle strength and respiratory function that can also affect other organ systems. The development of enzyme replacement therapy has made it one of the few inherited mus
Autor:
Kathryn L. Berrier, Eleanor G. Botha, Anna Tylki-Szymańska, Jennifer L. Goldstein, Priya S. Kishnani, Deeksha Bali, Carolyn Ellaway, Mihaela Stefanescu, Amy S. Rosenburg, Catherine Rehder, Nesrin Karabul, Kaustuv Bhattacharya, Zoheb B. Kazi, Sean N. Prater
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)–negative (CN) patients have immune responses
Autor:
Trusha Patel, Antonin de Fougerolles, Douglas J. Ringler, Priya S. Kishnani, Suhrad G. Banugaria, Sean N. Prater, Herman Waldmann, Amy S. Rosenberg, Baodong Sun, Keri Fredrickson
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 446-450 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 446-450 (2014)
Approximately 35–40% of patients with classic infantile Pompe disease treated with enzyme replacement therapy (ERT) develop high, sustained antibody titers against the therapeutic enzyme alglucosidase alfa, which abrogates the treatment efficacy. I
Autor:
Erin J. Feeney, Sean N. Prater, Benedikt Schoser, Nina Raben, Stephanie Austin, Yin-Hsiu Chien, Hanna Mandel, Evelyn Ralston, Priya S. Kishnani, Wuh-Liang Hwu
Publikováno v:
Acta Neuropathologica Communications
Background Pompe disease, an inherited deficiency of lysosomal acid alpha-glucosidase (GAA), is a metabolic myopathy with heterogeneous clinical presentations. Late-onset Pompe disease (LOPD) is a debilitating progressive muscle disorder that can occ
Autor:
Crystal Sung, Amy S. Rosenberg, Priya S. Kishnani, Suhrad G. Banugaria, Claire Morgan, Sean N. Prater
Dear Editors, In a recent paper in JIMD Reports, Al Khallaf et al. present two siblings (ages 4.5 and 2 years, respectively) with infantile Pompe disease (IPD). Despite being CRIM-negative [as determined by CRIM analysis using monoclonal antibodies s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ab49c3d5d65f69762094a0fb431be8
https://europepmc.org/articles/PMC4353589/
https://europepmc.org/articles/PMC4353589/
Autor:
Sean N. Prater, Suhrad G. Banugaria, Trusha Patel, Hanna Mandel, Priya S. Kishnani, Eugene Vlodavski, Anne F. Buckley, Nina Raben, Erin J. Feeney
Publikováno v:
Orphanet Journal of Rare Diseases
Background Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that the underlying pathology leading to tissue damage is cause
Autor:
Chennareddy V. Subba-Reddy, Kim Y. Green, Lisa O. Roberts, Kyr Kwok, JC Young, Lmw Chung, Peter Simpson, Ian Goodfellow, C. C. Kao, Birtley, Yasmin Chaudhry, Stanislav V. Sosnovtsev, Jan Marchant, Stephen Matthews, M Tong, Eoin N. Leen, Sean N. Prater, Stephen Curry
Publikováno v:
Journal of virology. 87(10)
We report the solution structures of the VPg proteins from feline calicivirus (FCV) and murine norovirus (MNV), which have been determined by nuclear magnetic resonance spectroscopy. In both cases, the core of the protein adopts a compact helical str