Որոնման արդյունքները - J. Lawrence Merritt
- Ցուցադրվում են 1 - 17 արդյունքները 17
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Fatty acid oxidation disorders J. Lawrence Merritt, Marie Norris, Shibani Kanungo
Հրապարակվել է 2018Revisão -
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eP166: Vestronidase alfa for the treatment of Mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program Roberto Guigliani, Antonio González-Meneses López, Maurizio Scarpa, Heather Lau, Lin Zhang, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt
Հրապարակվել է 2022Artigo -
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Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, Ghayda Mirzaa, Kimberly Foss, J. Lawrence Merritt, Jenny Thies, Heather C. Mefford, Edward J. Novotny
Հրապարակվել է 2018Artigo -
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Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate 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
Հրապարակվել է 2011Artigo -
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A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained Event 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
Հրապարակվել է 2019Artigo -
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P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency* 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
Հրապարակվել է 2025Artigo -
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P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP) 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
Հրապարակվել է 2024Artigo -
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Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease m... 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
Հրապարակվել է 2024Artigo -
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Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary 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
Հրապարակվել է 2016Artigo -
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Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants 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
Հրապարակվել է 2016Artigo -
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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium 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
Հրապարակվել է 2010Revisão -
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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders 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
Հրապարակվել է 2012Artigo -
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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants 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
Հրապարակվել է 2018Artigo -
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Defining the phenotypic spectrum of <i>SLC6A1</i> mutations 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
Հրապարակվել է 2018Artigo -
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Issue Information 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
Հրապարակվել է 2021Paratexto
Որոնման գործիքներ:
Առնչվող խորագիր
Medicine
Internal medicine
Pediatrics
Biochemistry
Surgery
Amino acid
Arginine
Biology
Chemistry
Disease
Pathology
Urea cycle
Gene
Genetics
Guideline
Phenotype
Psychiatry
Adverse effect
Beta oxidation
Bioinformatics
Carnitine
Clinical Practice
Computer science
Endocrinology
Environmental health
Enzyme replacement therapy
Exome sequencing
Family medicine
Gastroenterology
Intensive care medicine