Search Results - Nuria Carrillo

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  1. 1
    Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes

    Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes by Nuria Carrillo, Charles P. Venditti

    Published 2011
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  2. 2
    GNE myopathy: current update and future therapy

    GNE myopathy: current update and future therapy by Ichizo Nishino, Nuria Carrillo, Zohar Argov

    Published 2014
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  3. 3
    Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

    Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management by Nuria Carrillo, Randy J. Chandler, Charles P. Venditti

    Published 2011
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  4. 4
    GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

    GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges by Nuria Carrillo, May Christine V. Malicdan, Marjan Huizing

    Published 2018
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  5. 5
    Hydroxocobalamin dose escalation improves metabolic control in cblC

    Hydroxocobalamin dose escalation improves metabolic control in cblC by Nuria Carrillo, Jennifer L. Sloan, David Valle, Ada Hamosh, Charles P. Venditti

    Published 2009
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  6. 6
    Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

    Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency by Brian P. Brooks, A. Thompson, Jennifer L. Sloan, Irini Manoli, Nuria Carrillo, Wadih M. Zein, Charles P. Venditti

    Published 2016
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  7. 7
    GNE myopathy: New name and new mutation nomenclature

    GNE myopathy: New name and new mutation nomenclature by Marjan Huizing, Nuria Carrillo, May Christine V. Malicdan, S. Noguchi, William A. Gahl, Stella Mitrani‐Rosenbaum, Zohar Argov, Ichizo Nishino

    Published 2014
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  8. 8
    A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid

    A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid by Rohini Sidhu, Hui Jiang, Nicole Y. Farhat, Nuria Carrillo, Myra Woolery, Elizabeth A. Ottinger, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang

    Published 2015
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  9. 9
    Mutation Update for<i>GNE</i>Gene Variants Associated with GNE Myopathy

    Mutation Update for<i>GNE</i>Gene Variants Associated with GNE Myopathy by Frank Celeste, Thierry Vilboux, Carla Ciccone, John Karl L. De Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo, Marjan Huizing

    Published 2014
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  10. 10
    Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy

    Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy by Randy J. Chandler, Matthew C. LaFave, Gaurav K. Varshney, Niraj Trivedi, Nuria Carrillo, Julien S. Senac, Weiwei Wu, Victoria Hoffmann, Abdel Elkahloun, Shawn M. Burgess, Charles P. Venditti

    Published 2015
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  11. 11
    Safety, pharmacokinetics and sialic acid production after oral administration of N -acetylmannosamine (ManNAc) to subjects with GNE myopathy

    Safety, pharmacokinetics and sialic acid production after oral administration of N -acetylmannosamine (ManNAc) to subjects with GNE myopathy by Xin Xu, Amy Q. Wang, Lea Latham, Frank Celeste, Carla Ciccone, May Christine V. Malicdan, Barry R. Goldspiel, Pramod Terse, James C. Cradock, N. Nora Yang, Selwyn C. Yorke, John C. McKew, William A. Gahl, Marjan Huizing, Nuria Carrillo

    Published 2017
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  12. 12
    Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

    Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study by Nuria Carrillo, May Christine V. Malicdan, Petcharat Leoyklang, Joseph A. Shrader, Galen O. Joe, Christina Slota, John Perreault, John D. Heiss, Bradley Class, Chia‐Ying Liu, Kennan Bradley, Colleen Jodarski, Carla Ciccone, Claire T. Driscoll, Rebecca Parks, Scott Van Wart, Levent Bayman, Christopher S. Coffey, Melanie Quintana, Scott Berry, Marjan Huizing, William A. Gahl

    Published 2021
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  13. 13
    Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

    Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria by Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli, Randy J. Chandler, Caitlin Krause, Nuria Carrillo, Suma Chandrasekaran, Justin R. Sysol, Kevin O’Brien, Natalie Hauser, Julie C. Sapp, Heidi Dorward, Marjan Huizing, Bruce A. Barshop, Susan A. Berry, Philip James, Neena L. Champaigne, Pascale de Lonlay, Vassilli Valayannopoulos, Michael D. Geschwind, Dimitar K. Gavrilov, William L. Nyhan, Leslie G. Biesecker, Charles P. Venditti

    Published 2011
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  14. 14
    Collaborative Development of 2-Hydroxypropyl-&amp;#946;-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

    Collaborative Development of 2-Hydroxypropyl-&amp;#946;-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease by Elizabeth A. Ottinger, Mark Kao, Nuria Carrillo, Nicole M. Yanjanin, Roopa Kanakatti Shankar, Marjo J. A. Janssen, Marcus E. Brewster, Ilona Scott, Xin Xu, Jim Cradock, Pramod Terse, Seameen Dehdashti, Juan Marugán, Wei Zheng, Lili Portilla, Alan Hubbs, William J. Pavan, John D. Heiss, Charles H. Vite, Steven U. Walkley, Daniel S. Ory, Steven A. Silber, Forbes D. Porter, Christopher P. Austin, John C. McKew

    Published 2014
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  15. 15
    Effects of blood pressure and lipid lowering on cognition

    Effects of blood pressure and lipid lowering on cognition by Jackie Bosch, Martin O’Donnell, Balakumar Swaminathan, Eva Lonn, Mikul Sharma, Gilles R. Dagenais, Rafael Díaz, Kamlesh Khunti, Basil S. Lewis, Álvaro Avezum, Claes Held, Matyàs Keltai, Christopher M. Reid, William D. Toff, Antonio Dans, Lawrence A. Leiter, Karen Sliwa, Shun Fu Lee, Janice M. Pogue, Robert G. Hart, Salim Yusuf, María Fernanda Alzogaray, M Aparici, Martin Berli, Martina Bevacqua, Molero Labarta, B. Bustos, Alberto Caccavo, Alfonsina Candiello, Marcelo A. Carignano, Nuria Carrillo, N. Carro, Luis Cartasegna, W. Casali, Arthur Justi Cassettari, Mae M. Centeno, Juan Pablo Cuello, Carlos Alberto Cuneo, Sandra Cusimano, C. Damonte, M. De Landaluc, Enrico De Martino, Raúl R. Rodrigues-Díez, Antonio Fernández, A. Ferrari, Louis Nuvagah Forti, Marcela Galello, Carlos García, Ruben Garcia Duran, Marcelo Garrido, Federico Giachello, Oscar Gómez Vilamajó, M. González, Fernando Guerlloy, Rodrigo Guerrero, Miguel Hominal, Adrian D. Hrabar, H. Imposti, Paulina Virginia Lanchiotti, Claudia Lauglé, Guillermo E Liniado, Marcos Litvak, Alessandra Longhi, Héctor Luciardi, Ian D.R. Mackinnon, R. Manzano, Julio C. S. Mariño, Barbara Merlo, R. Milesi, C. Mulazzi, Sergio Andrés Nemi, Silvia Ines Orio, MARIA JOSE PELAGAGGE, Sara Raimondi, Louis J. Rodino, Carlos J. Rodríguez, Laura R. Sago, Joan Sala, Anna Sánchez, Ramiro Sánchez, D. Santos, Pablo Schygiel, Virginia Sernia, Thomas W. Smith, Fernando Sökn, Leonardo Soso, Marcelo Trivi, Manuel Vico, Alberto S. Villamil, Dominik J. Vogel, Cesar Javier Zaidman, Walter P. Abhayaratna, J. Canalese, Henry Krum, Anushka Patel, Clarisse K. Brasil, C.B. Alves, Ana Rita Alves, José Carlos Aidar Ayoub, Luiz Carlos Corsetti Bergoli

    Published 2019
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