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There are 18467 results for: content related to: The genotype–phenotype correlation in Pompe disease

  1. Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease

    Annals of Neurology

    Volume 78, Issue 2, August 2015, Pages: 222–234, Adrian G. Todd, Jessica A. McElroy, Robert W. Grange, David D. Fuller, Glenn A. Walter, Barry J. Byrne and Darin J. Falk

    Version of Record online : 30 JUN 2015, DOI: 10.1002/ana.24433

  2. You have full text access to this Open Access content
    Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice

    Plant Biotechnology Journal

    Volume 13, Issue 8, October 2015, Pages: 1023–1032, Jin Su, Alexandra Sherman, Phillip A. Doerfler, Barry J. Byrne, Roland W. Herzog and Henry Daniell

    Version of Record online : 5 JUN 2015, DOI: 10.1111/pbi.12413

  3. Diagnostic criteria for late-onset (childhood and adult) pompe disease

    Muscle & Nerve

    Volume 40, Issue 1, July 2009, Pages: 149–160,

    Version of Record online : 16 JUN 2009, DOI: 10.1002/mus.21393

  4. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 40–49, Deeksha S. Bali, Jennifer L. Goldstein, Suhrad Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder and Priya S. Kishnani

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31319

  5. Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity

    Muscle & Nerve

    Volume 43, Issue 5, May 2011, Pages: 665–670, Deeksha S. Bali, Adviye A. Tolun, Jennifer L. Goldstein, Jian Dai and Priya S. Kishnani

    Version of Record online : 11 APR 2011, DOI: 10.1002/mus.21933

  6. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1161–1165, Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet Ausems, Jose Barcena Llona, Juan Bautista Lorite, Nadine van der Beek, Luisa Bonafe, Mario Cuk, Marc D'Hooghe, Baziel Engelen, A. Farouk, K. Fumic, E. Garcia-Delgado, Andreas Herzog, J. Hurst, Simon Jones, M. H. Kariminejad, Aynur Küçükçongar, W. Lissens, Allan Lund, Danielle Majoor-Krakauer, Shingo Kumamoto, E. Maravi, Suely Marie, Eugen Mengel, Irene Mavridou, E. Munteis Olivas, H. Najmabadi, Toshika Okumiya, Stojan Peric, Eduard Paschke, Barbara Plecko, Wim Robberecht, Piraye Serdaroglu, Mohammad Shboul, Mojca Zerjav Tansek, A. Tarnutzer, Vidosava Rakocevic Stojanovic, Anna Tylki-Szymanska, Maria Venâncio and Kristof Verhoeven

    Version of Record online : 29 MAY 2012, DOI: 10.1002/humu.22108

  7. Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease

    The Journal of Gene Medicine

    Volume 12, Issue 11, November 2010, Pages: 881–891, Baodong Sun, Songtao Li, Andrew Bird, Haiqing Yi, Alex Kemper, Beth L. Thurberg and Dwight D. Koeberl

    Version of Record online : 22 OCT 2010, DOI: 10.1002/jgm.1511

  8. SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france

    Muscle & Nerve

    Volume 51, Issue 6, June 2015, Pages: 884–889, Andoni Echaniz-Laguna, Robert-Yves Carlier, Kenza Laloui, Pierre Carlier, Emmanuelle Salort-Campana, Jean Pouget and Pascal Laforet

    Version of Record online : 2 APR 2015, DOI: 10.1002/mus.24653

  9. Consensus treatment recommendations for late-onset Pompe disease

    Muscle & Nerve

    Volume 45, Issue 3, March 2012, Pages: 319–333, Edward J. Cupler, Kenneth I. Berger, Robert T. Leshner, Gil I. Wolfe, Jay J. Han, Richard J. Barohn, John T. Kissel and of the AANEM CONSENSUS COMMITTEE ON LATE-ONSET POMPE DISEASE

    Version of Record online : 15 DEC 2011, DOI: 10.1002/mus.22329

  10. Identification and Characterization of Aberrant GAA Pre-mRNA Splicing in Pompe Disease Using a Generic Approach

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 57–68, Atze J. Bergsma, Marian Kroos, Marianne Hoogeveen-Westerveld, Dicky Halley, Ans T. van der Ploeg and W. W. Pijnappel

    Version of Record online : 1 DEC 2014, DOI: 10.1002/humu.22705

  11. Systematic Structure–Activity Study on Potential Chaperone Lead Compounds for Acid α-Glucosidase

    ChemMedChem

    Volume 7, Issue 11, November 2012, Pages: 1943–1953, Dr. Chiara Bruckmann, Heidi Repo, Dr. Elina Kuokkanen, Dr. Henri Xhaard and Prof. Pirkko Heikinheimo

    Version of Record online : 11 SEP 2012, DOI: 10.1002/cmdc.201200309

  12. You have full text access to this OnlineOpen article
    Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

    EMBO Molecular Medicine

    Volume 5, Issue 5, May 2013, Pages: 691–706, Carmine Spampanato, Erin Feeney, Lishu Li, Monica Cardone, Jeong-A Lim, Fabio Annunziata, Hossein Zare, Roman Polishchuk, Rosa Puertollano, Giancarlo Parenti, Andrea Ballabio and Nina Raben

    Version of Record online : 18 APR 2013, DOI: 10.1002/emmm.201202176

  13. Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression

    The Journal of Gene Medicine

    Volume 11, Issue 10, October 2009, Pages: 913–920, Baodong Sun, Haoyue Zhang, Andrew Bird, Songtao Li, Sarah P. Young and Dwight D. Koeberl

    Version of Record online : 20 JUL 2009, DOI: 10.1002/jgm.1372

  14. You have free access to this content
    New insights into therapeutic options for Pompe disease

    IUBMB Life

    Volume 63, Issue 11, November 2011, Pages: 979–986, Emmanuel Richard, Gaëlle Douillard-Guilloux and Catherine Caillaud

    Version of Record online : 14 OCT 2011, DOI: 10.1002/iub.529

  15. The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 30–39, Emanuela Lacaná, Lynne P. Yao, Anne R. Pariser and Amy S. Rosenberg

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31316

  16. A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 54–61, Chia-Feng Yang, Hao-Chuan Liu, Ting-Rong Hsu, Fang-Chih Tsai, Sheng-Fong Chiang, Chuan-Chi Chiang, Hui-Chen Ho, Chih-Jou Lai, Tsui-Feng Yang, Sung-Yin Chuang, Ching-Yuang Lin and Dau-Ming Niu

    Version of Record online : 15 NOV 2013, DOI: 10.1002/ajmg.a.36197

  17. You have full text access to this OnlineOpen article
    Modulation of mTOR signaling as a strategy for the treatment of Pompe disease

    EMBO Molecular Medicine

    Volume 9, Issue 3, March 2017, Pages: 353–370, Jeong-A Lim, Lishu Li, Orian S Shirihai, Kyle M Trudeau, Rosa Puertollano and Nina Raben

    Version of Record online : 27 JAN 2017, DOI: 10.15252/emmm.201606547

  18. Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of α-glucosidase in Pompe disease

    The Journal of Gene Medicine

    Volume 11, Issue 4, April 2009, Pages: 279–287, Gaëlle Douillard-Guilloux, Emmanuel Richard, Lionel Batista and Catherine Caillaud

    Version of Record online : 4 MAR 2009, DOI: 10.1002/jgm.1305

  19. Combination of two different homozygote mutations in Pompe disease

    Pediatrics International

    Volume 58, Issue 3, March 2016, Pages: 241–243, Alev Arslan, Hatice Gamze Poyrazoğlu, Aslihan Kiraz, Alper Özcan, Halid Işık, Ayse Betül Ergul, Neslihan Önenli Mungan, Berthold Streubel, Serdar Ceylaner and Yasemin Altuner Torun

    Version of Record online : 4 MAR 2016, DOI: 10.1111/ped.12873

  20. Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 50–58, Sarah P. Young, Monique Piraud, Jennifer L. Goldstein, Haoyue Zhang, Catherine Rehder, Pascal Laforet, Priya S. Kishnani, David S. Millington, Mustafa R. Bashir and Deeksha S. Bali

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31320