Kết quả tìm kiếm - Damara Ortiz

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  1. 1
    Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study

    Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study Bằng Ulla Feldt‐Rasmussen, Derralynn Hughes, Gere Sunder‐Plassmann, Suma P. Shankar, Khan Nedd, Iacopo Olivotto, Damara Ortiz, Toya Ohashi, Takashi Hamazaki, Nina Skuban, Julie Yu, Jay Barth, Kathy Nicholls

    Được phát hành 2020
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    Artigo
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  2. 2
    Newborn Screening for Pompe Disease: Pennsylvania Experience

    Newborn Screening for Pompe Disease: Pennsylvania Experience Bằng Can Fıçıcıoğlu, Rebecca C. Ahrens‐Nicklas, Joshua Barch, Sanmati Cuddapah, Brenda DiBoscio, James C. DiPerna, Patricia L. Gordon, Nadene Henderson, Caitlin Menello, Nicole Luongo, Damara Ortiz, Rui Xiao

    Được phát hành 2020
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    Artigo
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  3. 3
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients Bằng Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    Được phát hành 2020
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    Artigo
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  4. 4
    Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

    Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALA... Bằng Eric Wallace, Özlem Göker-Alpan, William R. Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn Hughes, Robert J. Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique P. Germain, Ankit Mehta, Patrick Deegan, Mária Judit Molnár, Damara Ortiz, Ana Jovanović, Michael Muriello, Bruce A. Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Geberhiwot, Ilkka Kantola, Jasmine Knoll, Stephen Waldek, Khan Nedd, Amel Karaa, Einat Brill‐Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Anat Sakov, David G. Warnock

    Được phát hành 2023
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    Artigo
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  5. 5
    IRF2BPL Is Associated with Neurological Phenotypes

    IRF2BPL Is Associated with Neurological Phenotypes Bằng Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin Vera, Noriko Salamon, John M. Graham, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyunglok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C. Smith, Joan Jasien, Sujay Kansagra, Gail A. Spiridigliozzi, Mays El-Dairi, Robert K. Lark, Kacie Riley, Dwight D. Koeberl, Katie Golden‐Grant, Shinya Yamamoto, Michael F. Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F. Nelson, David B. Goldstein, Hugo J. Bellen, Loren D.M. Peña, Steven Callens, Paul Coucke, Bart Dermaut, Dimitri Hemelsoet, Bruce Poppe, Wouter Steyaert, Wim Terryn, Rudy Van Coster, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman

    Được phát hành 2018
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    Artigo
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