Resultados de procura - Deborah Marsden

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  1. 1
    Newborn Screening of Lysosomal Storage Disorders

    Newborn Screening of Lysosomal Storage Disorders por Deborah Marsden, Harvey L. Levy

    Publicado 2010
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  2. 2
    Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

    Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders por Deborah Marsden, Camille L. Bedrosian, Jerry Vockley

    Publicado 2021
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  3. 3
    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clini... por Susan E. Waisbren, Harvey L. Levy, Michael S. Noble, Dietrich Matern, N. Gregersen, K. Pasley, Deborah Marsden

    Publicado 2008
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  4. 4
    Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review

    Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review por Jerry Vockley, Deborah Marsden, Elizabeth McCracken, Stephanie J. DeWard, Amanda Barone, Kristen Hsu, Emil Kakkis

    Publicado 2015
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  5. 5
    eP166: Vestronidase alfa for the treatment of Mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program

    eP166: Vestronidase alfa for the treatment of Mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program por Roberto Guigliani, Antonio González-Meneses López, Maurizio Scarpa, Heather Lau, Lin Zhang, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt

    Publicado 2022
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  6. 6
    X‐linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

    X‐linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype por Irina Anselm, Fowzan S. Alkuraya, Gajja S. Salomons, C. Jakobs, A. Fulton, Maitreyi Mazumdar, Michael J. Rivkin, Richard E. Frye, Tina Young Poussaint, Deborah Marsden

    Publicado 2006
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  7. 7
    Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

    Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots por Thomas H. Zytkovicz, Eileen F Fitzgerald, Deborah Marsden, Cecilia Larson, Vivian E. Shih, Donna M. Johnson, Arnold W. Strauss, Anne Marie Comeau, Roger B. Eaton, George F. Grady

    Publicado 2001
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  8. 8
    The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII

    The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII por Raymond Wang, José Francisco da Silva Franco, Jaime López‐Valdez, Esmeralda Martins, V. Reid Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden, Agnieszka Jurecka, Paul Harmatz

    Publicado 2020
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  9. 9
    P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)

    P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP) por Roberto Giugliani, Antonio González‐Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara K. Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, B. Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt

    Publicado 2024
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  10. 10
    Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

    Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders por Jerry Vockley, Joel Charrow, J Ganesh, Marthand S. Eswara, George A. Díaz, Elizabeth McCracken, Robert L. Conway, Gregory M. Enns, Joanne P. Starr, R. Wang, José E. Abdenur, Joan Sánchez-de-Toledo, Deborah Marsden

    Publicado 2016
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  11. 11
    Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

    Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)... por Jerry Vockley, Barbara K. Burton, Gerard T. Berry, Nicola Longo, John G. Phillips, Amarilis Sanchez‐Valle, Pranoot Tanpaiboon, Stephanie Grünewald, Elaine Murphy, Alexandra Bowden, Wencong Chen, Chao‐Yin Chen, Jason Cataldo, Deborah Marsden, Emil Kakkis

    Publicado 2019
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  12. 12
    UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

    UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment por Jerry Vockley, Barbara K. Burton, Gerard T. Berry, Nicola Longo, John G. Phillips, Amarilis Sanchez‐Valle, Pranoot Tanpaiboon, Stephanie Grünewald, Elaine Murphy, Reed Humphrey, J. Mayhew, A. Bowden, L. Zhang, Jason Cataldo, Deborah Marsden, Emil Kakkis

    Publicado 2017
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  13. 13
    Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

    Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders por Andrew E. Mulberg, Christina Bucci‐Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert M. Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro, Vivian Kessler

    Publicado 2019
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  14. 14
    Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

    Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease m... por Roberto Giugliani, Antonio González‐Meneses, Maurizio Scarpa, Barbara K. Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, B. Chabrol, Christina Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt

    Publicado 2024
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  15. 15
    Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD odyssey program

    Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD odyssey program por Erru Yang, Eliza Kruger, David Yin, Kieran Mace, Meghan Tierney, Noelle Liao, Emily Cibelli, Dan Drozd, Nathan T. Ross, Kathleen L. Deering, Peter Herout, Qing Harshaw, Alicia C. Shillington, Nina A. Thomas, Deborah Marsden, Amy Kritzer, Jerry Vockley

    Publicado 2024
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  16. 16
    Pompe disease diagnosis and management guideline

    Pompe disease diagnosis and management guideline por Priya S. Kishnani, Robert D. Steiner, Deeksha Bali, Kenneth I. Berger, Barry J. Byrne, Laura E. Case, John F. Crowley, Steven M. Downs, R. Rodney Howell, Richard M. Kravitz, Joanne Mackey, Deborah Marsden, Anna Maria Martins, David S. Millington, Marc Nicolino, Gwen O’grady, Marc C. Patterson, David M. Rapoport, Alfred E. Slonim, Carolyn T. Spencer, Cynthia J. Tifft, Michael S. Watson

    Publicado 2006
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  17. 17
    Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

    Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary por Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear, Piero Rinaldo, R. Rodney Howell, Jose Cordero, E. Steven Edwards, Jennifer L. Howse, Tricia Mullaley, Peter Van Dyck, William H. Becker, Coleen Boyle, George C. Cunningham, Michael R. DeBaun, Stephen M. Downs, Edward B. Goldman, Stephen I. Goodman, Fernando Guerra, W. Harry Hannon, James W. Hanson, Cecilia Larson, Scott D. McLean, Gurvaneet Randhawa, Derek Robertson, Mark A. Rothstein, Robert D. Steiner, Sonia M. Suter, Bradford L. Therrell, Thomas Tonniges, Wanda Yazzie, Donald B. Bailey, Celia I. Kaye, Alex R. Kemper, Kenneth A. Pass, Jennifer M. Puck, Franklin Desposito, Gary Hoffman, Kathy Stagni, Arnold W. Strauss, Tracy L. Trotter, Anne M. Willey, Harvey L. Levy, James R. Eckman, Fred Lorey, Deborah Marsden, Julie Miller, Danielle Laraque, Kelly R. Leight, Barbara P. Yawn, Edward B. Goldman, Beverly Dozier, Lynn D. Fleisher

    Publicado 2006
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  18. 18
    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria por Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo

    Publicado 2023
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