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

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000600392

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

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100503

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

المؤلفون: Andrade, Isadora, Ribeiro, River, Carneiro, Zumira A., Giugliani, Roberto^{Aff2, Aff5}, Pereira, Catarina, Cozma, Claudia, Grinberg, Daniel, Vilageliu, Lluïsa, Lourenco, Charles M.^{Aff1, IDs13256021032403_cor9}

المصدر: Journal of Medical Case Reports. 16(1)

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

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

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

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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

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)