-
1دورية أكاديمية
المؤلفون: Taniguchi, Juliana B., Elui, Valeria M.C., Osorio, Flavia L., Hallak, Jaime E.C., Crippa, Jose A.S., Machado-de-Sousa, Joao P., Kebbe, Leonardo M., Lourenco, Charles M., Scarel-Caminaga, Raquel M., Marques Jr, Wilson
المصدر: Arquivos de Neuro-Psiquiatria. June 2013 71(6)
مصطلحات موضوعية: quality of life, questionnaires, Charcot-Marie-Tooth Disease
وصف الملف: text/html
-
2
المؤلفون: Baldini, Giulianna, Palmejiani, José Fernando, Sant'Anna, João Pedro Bonevechio, Carneiro, Zumira Aparecida, Giugliani, Roberto, Pereira, Catarina, Cozma, Claudia, O’Neill, Cara, Lourenco, Charles M.
المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2020 8
مصطلحات موضوعية: Sanfilippo syndrome, Mucopolysaccharidosis IIIB, heparan sulfate, neurological impairment, cognitive decline
وصف الملف: text/html
-
3دورية أكاديمية
المؤلفون: Mole, Sara E, Schulz, Angela, Badoe, Eben, Berkovic, Samuel F, de Los Reyes, Emily C, Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M, Mason, Heather L, Mink, Jonathan W, Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E, Scarpa, Maurizio, Scheffer, Ingrid E, Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y, Williams, Ruth E
المصدر: Orphanet Journal of Rare Diseases. 16(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Brain Disorders, Neurodegenerative, Neurosciences, Clinical Research, 7.3 Management and decision making, Management of diseases and conditions, Good Health and Well Being, Consensus, Humans, Neuronal Ceroid-Lipofuscinoses, Tripeptidyl-Peptidase 1, Expert mapping, Guideline development program, CLN2, Batten, Neurodegenerative disorder, Key Opinion Leader, Modified-Delphi, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1q46m0ft
-
4دورية أكاديمية
المؤلفون: Andrade, Isadora, Ribeiro, River, Carneiro, Zumira A., Giugliani, RobertoAff2, Aff5, Pereira, Catarina, Cozma, Claudia, Grinberg, Daniel, Vilageliu, Lluïsa, Lourenco, Charles M.Aff1, IDs13256021032403_cor9
المصدر: Journal of Medical Case Reports. 16(1)
-
5دورية أكاديمية
المؤلفون: Santos, Raul D., Lorenzatti, Alberto, Corral, Pablo, Nogueira, Juan Patricio, Cafferata, Alberto M., Aimone, Daniel, Lourenço, Charles M., Izar, Maria Cristina, Lima, Josivan G., Lottenberg, Ana Maria, Alonso, Rodrigo, Garay, Karla, Morales, Alvaro Ruiz, Vargas-Uricoechea, Hernando, Peña, Christian A. Colón, Roman-González, Alejandro
المصدر: In Journal of Clinical Lipidology September-October 2021 15(5):620-624
-
6دورية أكاديمية
المؤلفون: Hughes, Derralynn A, Nicholls, Kathleen, Shankar, Suma P, Sunder-Plassmann, Gere, Koeller, David, Nedd, Khan, Vockley, Gerard, Hamazaki, Takashi, Lachmann, Robin, Ohashi, Toya, Olivotto, Iacopo, Sakai, Norio, Deegan, Patrick, Dimmock, David, Eyskens, François, Germain, Dominique P, Goker-Alpan, Ozlem, Hachulla, Eric, Jovanovic, Ana, Lourenco, Charles M, Narita, Ichiei, Thomas, Mark, Wilcox, William R, Bichet, Daniel G, Schiffmann, Raphael, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Johnson, Franklin, Boudes, Pol, Benjamin, Elfrida R, Lockhart, David J, Barlow, Carrolee, Skuban, Nina, Castelli, Jeffrey P, Barth, Jay, Feldt-Rasmussen, Ulla
المصدر: Journal of Medical Genetics. 54(4)
مصطلحات موضوعية: Pediatric, Neurodegenerative, Clinical Trials and Supportive Activities, Rare Diseases, Clinical Research, Orphan Drug, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, 1-Deoxynojirimycin, Administration, Oral, Adolescent, Adult, Aged, Enzyme Replacement Therapy, Fabry Disease, Female, Humans, Lysosomes, Male, Middle Aged, Molecular Chaperones, Treatment Outcome, alpha-Galactosidase, Fabry disease, Pharmacological chaperone, enzyme replacement therapy, lyso-Gb3, lysosomal storage disorder, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5134k3dz
-
7دورية أكاديمية
المؤلفون: Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward *
المصدر: In The Lancet Diabetes & Endocrinology July 2020 8(7):594-605
-
8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
9دورية أكاديمية
المؤلفون: Politei, Juan M., Gordillo-González, Gisel, Guelbert, Norberto B., de Souza, Carolina F. Moura, Lourenço, Charles M., Solano, Martha L., Junqueira, Mariana M., Magalhães, Tatiana S.P.C., Martins, Ana M.
المصدر: In Journal of Pain and Symptom Management July 2018 56(1):146-152
-
10دورية أكاديمية
المؤلفون: Lourenco, Charles M., Queiroz, Amadeu, Sansao, Lilian, da Penha Ananias Morita, Maria, Coelho, Erica, Fonseca, Jacqueline
المصدر: In Molecular Genetics and Metabolism February 2024 141(2)