Hasil Pencarian - Deborah Marsden

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  1. 1
    P276: Long-chain fatty acid oxidation disorder genotypes, clinical signs and symptoms, and newborn screening history from a gene panel sponsored program

    P276: Long-chain fatty acid oxidation disorder genotypes, clinical signs and symptoms, and newborn screening history from a gene panel sponsored program oleh Vanessa Rangel Miller, Heather McLaughlin, Deborah Marsden, Omid Japalaghi, Nicole Miller

    Diterbitkan 2023-01-01
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  2. 2
    Growth patterns in patients with mucopolysaccharidosis VII

    Growth patterns in patients with mucopolysaccharidosis VII oleh Adriana M. Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Antonio Nino Ramirez, Lin Zhang, Deborah Marsden, Raymond Y. Wang, Paul Harmatz

    Diterbitkan 2023-09-01
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  3. 3
    P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program

    P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program oleh Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II

    Diterbitkan 2023-01-01
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  4. 4
    P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program

    P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program oleh Nicole Miller, Heraclio Gutierrez, Omid Japalaghi, Laura Konczal, Deborah Marsden, Markey McNutt, Ana Morales, Marcela Vela-Amieva, Vanessa Rangel Miller

    Diterbitkan 2024-01-01
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  5. 5
    P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

    P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database oleh Vanessa Rangel Miller, Heather Richbourg, Jerry Vockley, Omid Japalaghi, Moeenaldeen AlSayed, Mark Kiel, Stephanie Monteleone, Peter Baker, II, Sean Daugherty, Aneal Khan, Lawrence Korngut, Deborah Marsden, Ana Morales, Nicole Miller

    Diterbitkan 2024-01-01
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  6. 6
    P041: Real-world major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States

    P041: Real-world major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States oleh Erru Yang, Eliza Kruger, Kathleen Deering, David Yin, Kieran Mace, Noelle Liao, Meghan Tierney, Emily Cibelli, Dan Drozd, Nathan Ross, Peter Herout, Alicia Shillington, Nina Thomas, Deborah Marsden, Amy Kritzer, Jerry Vockley

    Diterbitkan 2023-01-01
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  7. 7
    The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

    The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation oleh Gerard T. Berry, Elizabeth D. Blume, Ann Wessel, Tajinder Singh, Leah Hecht, Deborah Marsden, Inderneel Sahai, Scott Elisofon, Michael Ferguson, Heung Bae Kim, David J. Harris, Didem Demirbas, Mohammed Almuqbil, William L. Nyhan

    Diterbitkan 2020-07-01
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  8. 8
    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) oleh Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II

    Diterbitkan 2024-01-01
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  9. 9
    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 oleh Andrew E. Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro, Vivian Kessler

    Diterbitkan 2019-02-01
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  10. 10
    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... oleh Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II

    Diterbitkan 2024-05-01
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