Search Results

There are 23511 results for: content related to: Late onset Pompe disease revealed by newborn screening

  1. Newborn screening for Pompe disease: An update, 2011

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 8–12, Barbara K. Burton

    Version of Record online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31315

  2. 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

  3. You have free access to this content
    Implications of Newborn Screening for Nurses

    Journal of Nursing Scholarship

    Volume 45, Issue 1, March 2013, Pages: 25–33, Jane DeLuca, Karen L. Zanni, Natasha Bonhomme and Alex R. Kemper

    Version of Record online : 31 JAN 2013, DOI: 10.1111/jnu.12005

  4. Waiving informed consent in newborn screening research: Balancing social value and respect

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

    Volume 148C, Issue 1, 15 February 2008, Pages: 23–30, Beth A. Tarini, Wylie Burke, C. Ronald Scott and Benjamin S. Wilfond

    Version of Record online : 15 JAN 2008, DOI: 10.1002/ajmg.c.30164

  5. Expanding newborn screening for lysosomal disorders: Opportunities and challenges

    Developmental Disabilities Research Reviews

    Volume 17, Issue 1, 2011, Pages: 9–14, Darrel J. Waggoner and Christopher A. Tan

    Version of Record online : 23 MAR 2012, DOI: 10.1002/ddrr.132

  6. Cystic fibrosis newborn screening: A model for neuromuscular disease screening?

    Annals of Neurology

    Volume 77, Issue 2, February 2015, Pages: 189–197, Michele A. Scully, Philip M. Farrell, Emma Ciafaloni, Robert C. Griggs and Jennifer M. Kwon

    Version of Record online : 13 DEC 2014, DOI: 10.1002/ana.24316

  7. Newborn screening for lysosomal storage disorders

    Acta Paediatrica

    Volume 97, Issue s457, April 2008, Pages: 33–37, Dietrich Matern

    Version of Record online : 13 MAR 2008, DOI: 10.1111/j.1651-2227.2008.00652.x

  8. 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

  9. Ethics, Evidence, and Cost in Newborn Screening

    Hastings Center Report

    Volume 38, Issue 3, May-June 2008, Pages: 23–31, MARY ANN BAILY and THOMAS H. MURRAY

    Version of Record online : 8 FEB 2012, DOI: 10.1353/hcr.0.0009

  10. You have free access to this content
    Poster Session Abstracts

    Pediatric Pulmonology

    Volume 50, Issue S41, October 2015, Pages: S193–S453,

    Version of Record online : 4 SEP 2015, DOI: 10.1002/ppul.23297

    Corrected by:

    Errata: Errata

    Vol. 50, Issue 12, 1175, Version of Record online: 9 NOV 2015

  11. Newborn screening for lysosomal storage disorders

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

    Volume 157, Issue 1, 15 February 2011, Pages: 63–71, Kimitoshi Nakamura, Kiyoko Hattori and Fumio Endo

    Version of Record online : 10 FEB 2011, DOI: 10.1002/ajmg.c.30291

  12. Expanded newborn screening by mass spectrometry: New tests, future perspectives

    Mass Spectrometry Reviews

    Volume 35, Issue 1, January/February 2016, Pages: 71–84, Daniela Ombrone, Elisa Giocaliere, Giulia Forni, Sabrina Malvagia and Giancarlo la Marca

    Version of Record online : 7 MAY 2015, DOI: 10.1002/mas.21463

  13. Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

    American Journal of Medical Genetics Part A

    Volume 173, Issue 10, October 2017, Pages: 2628–2634, Paul McIntosh, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil and Priya S. Kishnani

    Version of Record online : 1 AUG 2017, DOI: 10.1002/ajmg.a.38369

  14. Ethical and policy issues in pediatric genetics

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

    Volume 148C, Issue 1, 15 February 2008, Pages: 1–7, Lainie Friedman Ross

    Version of Record online : 15 JAN 2008, DOI: 10.1002/ajmg.c.30162

  15. Integration of new genetic diseases into statewide newborn screening: New England experience

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

    Volume 125C, Issue 1, 15 February 2004, Pages: 35–41, Anne Marie Comeau, Cecilia Larson and Roger B. Eaton

    Version of Record online : 14 JAN 2004, DOI: 10.1002/ajmg.c.30001

  16. Advances in newborn screening for biochemical genetic disorders

    Standard Article

    Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

    Inderneel Sahai and Harvey L. Levy

    Published Online : 15 APR 2005, DOI: 10.1002/047001153X.g106209

  17. Changing perspectives on the benefits of newborn screening

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 12, Issue 4, 2006, Pages: 270–279, Donald B. Bailey Jr., Laura M. Beskow, Arlene M. Davis and Debra Skinner

    Version of Record online : 20 DEC 2006, DOI: 10.1002/mrdd.20119

  18. Factors accounting for a missed diagnosis of cystic fibrosis after newborn screening

    Pediatric Pulmonology

    Volume 46, Issue 12, December 2011, Pages: 1166–1174, Michael J. Rock, Hara Levy, Christina Zaleski and Philip M. Farrell

    Version of Record online : 24 AUG 2011, DOI: 10.1002/ppul.21509

  19. Implementation of written consent for newborn screening in Victoria, Australia

    Journal of Paediatrics and Child Health

    Volume 50, Issue 5, May 2014, Pages: 399–404, Taryn Charles, James Pitt, Jane Halliday and David J Amor

    Version of Record online : 23 DEC 2013, DOI: 10.1111/jpc.12484

  20. Improved pulmonary and growth outcomes in cystic fibrosis by newborn screening

    Pediatric Pulmonology

    Volume 43, Issue 7, July 2008, Pages: 648–655, Melanie Sue Collins, Mary-Alice Abbott, Dorothy B. Wakefield, Craig D. Lapin, Ginny Drapeau, Sidney M. Hopfer, Robert M. Greenstein and Michelle M. Cloutier

    Version of Record online : 23 MAY 2008, DOI: 10.1002/ppul.20842