المؤلفون: Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., 2nd, Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta, Wagenmakers, Margreet, Wijburg, Frits A., Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias

المصدر: In Genetics in Medicine April 2024 26(4)

المؤلفون: Van Baelen, Amber, Roosens, Laurence, Devos, Sylvie, Verhulst, Stijn, Eyskens, François

المصدر: In Molecular Genetics and Metabolism Reports December 2023 37

المؤلفون: Jonckheere, An I., Kingma, Sandra D.K., Eyskens, François, Bordon, Victoria, Jansen, Anna C.

المصدر: In European Journal of Paediatric Neurology September 2023 46:1-7

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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

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URL الوصول: https://escholarship.org/uc/item/5134k3dz

المؤلفون: Muntau, Ania C.^Aff1, Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S., Lane, Paul, Alvarez, Ignacio, Rutsch, Frank

المصدر: Orphanet Journal of Rare Diseases. 16(1)

المؤلفون: Van Baelen, Amber, Roosens, Laurence, Verhulst, Stijn, Eyskens, Francois J.

المصدر: In Molecular Genetics and Metabolism February 2024 141(2)

المؤلفون: Mehta, Ankit, Eyskens, Francois J., Pisani, Antonio, Feldt-Rasmussen, Ulla, Hughes, Derralynn, Deegan, Patrick B., Goker-Alpan, Ozlem, Wallace, Eric, Bernat, John, Longo, Nicola, Bianchi, Francesco, Rocco, Rossana, Paleari, Ylenia

المصدر: In Molecular Genetics and Metabolism February 2024 141(2)

المؤلفون: van Erven, Britt^Aff13, Welling, Lindsey^Aff14, van Calcar, Sandra C.^Aff15, Doulgeraki, Artemis^Aff16, Eyskens, François^{Aff17, Aff18}, Gribben, Joanna^Aff19, Treacy, Eileen P.^{Aff20, Aff21}, Vos, Rein^{Aff22, Aff23}, Waisbren, Susan E.^Aff24, Rubio-Gozalbo, M. Estela^Aff13, Bosch, Annet M.^Aff14

المساهمون: Baumgartner, Matthias R., Series editor^Aff1, Patterson, Marc, Series editor^{Aff2, Aff9}, Rahman, Shamima, Series editor^{Aff3, Aff10}, Peters, Verena, Series editor^{Aff4, Aff12}, Morava, Eva, Editor-in-chief^{Aff5, Aff7}, Zschocke, Johannes, Series editor^{Aff6, Aff11}, Baumgartner, Matthias, editor^Aff8

المصدر: JIMD Reports, Volume 35. 35:87-96

المؤلفون: di Gangi, Caroline, Hermans, Maren, Rayyan, Maissa, Eyskens, François, Allegaert, Karel

المصدر: Children; Sep2023, Vol. 10 Issue 9, p1567, 9p

مصطلحات موضوعية: MOTHERS, NEWBORN screening, PILOT projects, HEALTH literacy, HEALTH insurance reimbursement, INFORMATION resources, DESCRIPTIVE statistics, SENSITIVITY & specificity (Statistics), DATA analysis software