検索結果 - Jessica Cohen‐Pfeffer

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  1. 1
    Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study

    Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study 著者: Deborah A. Bilder, Joyce A. Kobori, Jessica Cohen‐Pfeffer, Erin M. Johnson, Elaina Jurecki, Mitzie Grant

    出版事項 2017
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    Artigo
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  2. 2
    Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

    Long-term safety and efficacy of sapropterin: The PKUDOS registry experience 著者: Nicola Longo, Georgianne L. Arnold, Gabriella Pridjian, Gregory M. Enns, Can Fıçıcıoğlu, Susan Parker, Jessica Cohen‐Pfeffer

    出版事項 2015
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    Artigo
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  3. 3
    Intracerebroventricular Delivery as a Safe, Long-Term Route of Drug Administration

    Intracerebroventricular Delivery as a Safe, Long-Term Route of Drug Administration 著者: Jessica Cohen‐Pfeffer, Sridharan Gururangan, Thomas Lester, Daniel A. Lim, Adam J. Shaywitz, Manfred Westphal, Irene Slavc

    出版事項 2016
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  4. 4
    Adherence to clinic recommendations among patients with phenylketonuria in the United States

    Adherence to clinic recommendations among patients with phenylketonuria in the United States 著者: Elaina Jurecki, Stephen D. Cederbaum, Jeffrey W. Kopesky, Kristyn Perry, Fran Rohr, Amarilis Sanchez‐Valle, Krista Viau, M.Y. Sheinin, Jessica Cohen‐Pfeffer

    出版事項 2017
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    Artigo
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  5. 5
    Best practices for the use of intracerebroventricular drug delivery devices

    Best practices for the use of intracerebroventricular drug delivery devices 著者: Irene Slavc, Jessica Cohen‐Pfeffer, Sridharan Gururangan, Jeanne Krauser, Daniel A. Lim, Marcos Vinícius Calfat Maldaun, Christoph Schwering, Adam J. Shaywitz, Manfred Westphal

    出版事項 2018
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    Artigo
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  6. 6
    Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

    Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte 著者: James D. Weisfeld‐Adams, Mark A. Morrissey, Brian Kirmse, Bobbie R. Salveson, Melissa Wasserstein, Peter J. McGuire, Sherlykutty Sunny, Jessica Cohen‐Pfeffer, Chunli Yu, Michele Caggana, George A. Díaz

    出版事項 2009
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    Artigo
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  7. 7
    Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

    Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study 著者: Angela Schulz, Nicola Specchio, Emily de los Reyes, Paul Gissen, Miriam Nickel, Marina Trivisano, Shawn C. Aylward, Anupam Chakrapani, Christoph Schwering, Eva Wibbeler, Lena Marie Westermann, Douglas Ballon, Jonathan P. Dyke, Anu Cherukuri, Shailesh Bondade, Peter Slasor, Jessica Cohen Pfeffer

    出版事項 2023
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    Artigo
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  8. 8
    Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

    Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis 著者: Michael Fietz, Moeenaldeen AlSayed, Derek Burke, Jessica Cohen‐Pfeffer, Jonathan D. Cooper, Lenka Dvořáková, Roberto Giugliani, Emanuela Izzo, Helena Jahnová, Zoltán Lukács, Sara Mole, Inés Noher de Halac, David A. Pearce, Helena Poupětová, Angela Schulz, Nicola Specchio, Winnie Xin, Nicole L. Miller

    出版事項 2016
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    Artigo
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  9. 9
    Management Strategies for CLN2 Disease

    Management Strategies for CLN2 Disease 著者: Ruth Williams, Heather Adams, Martin Blohm, Jessica Cohen‐Pfeffer, Emily de los Reyes, Jonas Denecke, Kristen Drago, Charlie Fairhurst, Margie Frazier, Norberto Guelbert, Szilárd Kiss, Annamaria Kofler, John A. Lawson, Lenora Lehwald, Mary-Anne Leung, Svetlana Mikhaylova, Jonathan W. Mink, Miriam Nickel, Renée Shediac, Katherine B. Sims, Nicola Specchio, Meral Topçu, Ina von Löbbecke, Andrea West, Boris Zernikow, Angela Schulz

    出版事項 2017
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