Resultados da busca - J. Lawrence Merritt

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  1. 1
    Fatty acid oxidation disorders

    Fatty acid oxidation disorders por J. Lawrence Merritt, Marie Norris, Shibani Kanungo

    Publicado em 2018
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  2. 2
    Clinical manifestations and management of fatty acid oxidation disorders

    Clinical manifestations and management of fatty acid oxidation disorders por J. Lawrence Merritt, Erin MacLeod, Agnieszka Jurecka, Bryan E. Hainline

    Publicado em 2020
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  3. 3
    Effect of traumatic spinal cord transection on human upper gastrointestinal motility and gastric emptying

    Effect of traumatic spinal cord transection on human upper gastrointestinal motility and gastric emptying por Robert D. Fealey, Joseph H. Szurszewski, J. Lawrence Merritt, Eugene P. DiMagno

    Publicado em 1984
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  4. 4
    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 em 2022
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  5. 5
    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy por Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, Ghayda Mirzaa, Kimberly Foss, J. Lawrence Merritt, Jenny Thies, Heather C. Mefford, Edward J. Novotny

    Publicado em 2018
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  6. 6
    Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

    Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate por Uta Lichter‐Konecki, George A. Díaz, J. Lawrence Merritt, Annette Feigenbaum, Claudia Jomphe, Jean‐Francois Marier, Martin Béliveau, Joe Mauney, Klara Dickinson, Antonia Martínez, Masoud Mokhtarani, Bruce F. Scharschmidt, William J. Rhead

    Publicado em 2011
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  7. 7
    A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained Event

    A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained Event por J. Lawrence Merritt, Ricardo A. Quinonez, Joshua L. Bonkowsky, Wayne H. Franklin, David A. Gremse, Bruce E. Herman, Carole Jenny, Eliot S. Katz, Leonard R. Krilov, Chuck Norlin, Robert E. Sapién, Joel S. Tieder

    Publicado em 2019
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  8. 8
    P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency*

    P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency* por Cary O. Harding, Janet L. Thomas, Margo Sheck Breilyn, María L. Couce, Tarekegn Geberhiwot, Nathalie Guffon, Leticia Ceberio Hualde, Aneal Khan, Laura Konczal, Maureen Peters, Lipika Ghosh, J. Lawrence Merritt, Eric Crombez

    Publicado em 2025
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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 em 2024
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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... 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 em 2024
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  11. 11
    Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary

    Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary por Joel S. Tieder, Joshua L. Bonkowsky, Ruth A. Etzel, Wayne H. Franklin, David A. Gremse, Bruce E. Herman, Eliot S. Katz, Leonard R. Krilov, J. Lawrence Merritt, Chuck Norlin, Jack M. Percelay, Robert E. Sapién, Richard N. Shiffman, Michael Smith

    Publicado em 2016
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  12. 12
    Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

    Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants por Joel S. Tieder, Joshua L. Bonkowsky, Ruth A. Etzel, Wayne H. Franklin, David A. Gremse, Bruce E. Herman, Eliot S. Katz, Leonard R. Krilov, J. Lawrence Merritt, Chuck Norlin, Jack M. Percelay, Robert E. Sapién, Richard N. Shiffman, Michael Smith

    Publicado em 2016
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  13. 13
    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium por Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey P. Krischer, Hye Seung Lee, Cynthia LeMons, Matthias R. Baumgartner, Stephen Cederbaum, George A. Díaz, Annette Feigenbaum, Renata C. Gallagher, Cary O. Harding, Douglas S. Kerr, Brendan C. Lanpher, Brendan Lee, Uta Lichter‐Konecki, Shawn E. McCandless, J. Lawrence Merritt, Mary Lou Oster‐Granite, Margretta R. Seashore, Tamar Stricker, Marshall Summar, Susan E. Waisbren, Marc Yudkoff, Mark L. Batshaw

    Publicado em 2010
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  14. 14
    Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

    Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders por Masoud Mokhtarani, George A. Díaz, William J. Rhead, Uta Lichter‐Konecki, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata C. Gallagher, Dennis Bartholomew, Cary O. Harding, Mark Korson, Shawn E. McCandless, Wendy E. Smith, Jerry Vockley, Stephen A. Bart, David Kronn, Roberto Zori, Stephen Cederbaum, Naghmeh Dorrani, J. Lawrence Merritt, Sandesh Sreenath-Nagamani, Marshall Summar, Cynthia LeMons, Klara Dickinson, Dion F. Coakley, Tristen Moors, B. Lee, Bruce F. Scharschmidt

    Publicado em 2012
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  15. 15
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants por Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Publicado em 2018
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  16. 16
    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations por Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Reichert, Manuela Pendziwiat, Judith Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

    Publicado em 2018
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  17. 17
    Issue Information

    Issue Information por Kelly A. Tappenden, David A. August, Juan B. Ochoa, Joseph I. Boullata, Rph Jean, Charles Preiser, Kathleen M. Gura, Marion F. Winkler, Russell J. Merritt, Lillian Banchik, Ding‐You Li, Ronald L. Koretz, Aspen Staff, Wanda Johnson, Kassie Stovell, Catherine B. Klein, Michaël P. Casaer, Isabel Correia, John K. DiBaise, Rose Ann DiMaria‐Ghalili, John Drover, Kazuhiko Fukatsu, Praveen S. Goday, Rosemary A. Kozar, Laura E. Matarese, Sarah Miller, Alan Shenkin, Emma M. Tillman, Justine Turner, Brian Winther, Khursheed N. Jeejeebhoy, St Michael', Douglas W. Wilmore, Bruce R. Bistrian, Josef Finsterer, H. Zweers, Mirian C. H. Janssen, Geert Wanten, Marie Norris, Anna Scott, S.M. Sullivan, Irene Chang, Christina Lam, Angela Sun, Sihoun Hahn, Jenny Thies, Melissa Gunnarson, Kelly N. McKean, J. Lawrence Merritt

    Publicado em 2021
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