-
1دورية أكاديمية
المؤلفون: Deborah Elstein, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Diego Fernandez-Sasso, Pilar Giraldo, Özlem Göker-Alpan, Derralynn Hughes, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Ida Vanessa D. Schwartz, Majdolen Istaiti, Jaco Botha, Noga Gadir, Jörn Schenk, Ari Zimran
المصدر: Journal of Clinical Medicine, Vol 13, Iss 12, p 3588 (2024)
مصطلحات موضوعية: velaglucerase alfa, enzyme replacement therapy, ERT, Gaucher disease, GOS, registry, Medicine
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Patrick Deegan, Heather Lau, Deborah Elstein, Diego Fernandez-Sasso, Pilar Giraldo, Derralynn Hughes, Ari Zimran, Majdolen Istaiti, Noga Gadir, Jaco Botha, Shoshana Revel-Vilk
المصدر: Journal of Clinical Medicine, Vol 13, Iss 10, p 2782 (2024)
مصطلحات موضوعية: velaglucerase alfa, enzyme replacement therapy, ERT, Gaucher disease, GOS, registry, Medicine
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Heather Lau, Paul Harmatz, Jaco Botha, Jennifer Audi, Bianca Link
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101005- (2023)
مصطلحات موضوعية: Mucopolysaccharidosis type II, Hunter Outcome Survey, Enzyme replacement therapy, Surgery, Neuronopathic phenotype, Non-neuronopathic phenotype, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Derralynn A. Hughes, Patrick Deegan, Pilar Giraldo, Özlem Göker-Alpan, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Maurizio Scarpa, Jaco Botha, Noga Gadir, Ari Zimran
المصدر: Journal of Clinical Medicine, Vol 12, Iss 12, p 4017 (2023)
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian S. Eichler
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Leukodystrophy, Early childhood neurodegeneration, Aspartoacylase deficiency, Spongy degeneration of the brain, Canavan-van bogaert-bertrand disease, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
-
6دورية أكاديمية
المؤلفون: Derralynn A. Hughes, Patrick Deegan, Pilar Giraldo, Özlem Göker-Alpan, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Maurizio Scarpa, Jaco Botha, Noga Gadir, Ari Zimran
المصدر: Journal of Clinical Medicine, Vol 11, Iss 17, p 5158 (2022)
مصطلحات موضوعية: Gaucher disease, enzyme replacement therapy, substrate reduction therapy, treatment switch, Medicine
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Reena V. Kartha, Marcia R. Terluk, Roland Brown, Abigail Travis, Usha R. Mishra, Kyle Rudser, Heather Lau, Jeanine R. Jarnes, James C. Cloyd, Neal J. Weinreb
المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100667- (2020)
مصطلحات موضوعية: Gaucher disease, Oxidative stress, Glutathione, Lipid peroxidation, Antioxidants, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
8
المؤلفون: Heather Lau, Giulietta Riboldi
المصدر: Tremor and Other Hyperkinetic Movements. 13
مصطلحات موضوعية: General Medicine
-
9
المؤلفون: Sheela Sitaraman, Richard Roxburgh, Kristina Gutschmidt, Ela Stefanescu, Drago Bratkovic, Thomas Burrow, Kornblum Cornelia, Kristl Claeys, Miriam Freimer, Ozlem Goker-Alpan, Srilakshmi Kuchipudi, Alan Pestronk, Wolfgang Löscher, Francoise Bouhour, Maria Judit Molnar, Ans T. van der Ploeg, Halina Bartosik-Psujek, Mitchell Goldman, Robert D. Henderson, Stephanie Dearmey, Colin Quinn, Paula R. Clemens, Priya S. Kishnani, Jennifer B Avelar, Nicola Longo, Shahram Attarian, Robert Hopkin, Tomo Sawada, Blaž Koritnik, George Konstantinos Papadimas, Hideaki Shiraishi, Christopher Lindberg, Jin-Hong Shin, Ivaylo Tarnev, Tahseen Mozaffar, Heather Lau, Michel Tchan, Jozsef Janszky, Tobias Ruck, Sabrina Sacconi, Benedikt Schoser, Hashiguchi Akihiro, Patrick Deegan, Ernest Butler, Nuria Vidal-Fernandez, Antonio Toscano, Tarekegn Hiwot, Gee Kim, Emmanuelle Salort-Campana, Jeff Castelli, Pascal Laforet, Céline Tard, Crystal Eldridge, Aneal Khan, Stephan Wenninger, Simona Fecarotta, Jordi Díaz-Manera, Jorge Alonso-Pérez, Yin-Hsiu Chien, Mark Tarnopolsky, Olimpia Musumeci, Hiroshi Kobayashi, Helio Pedro, Jonathan Cauci, Agnes Sebok, Cynthia Bodkin, Hai Jiang, Julie Berthy, Vescei Laszlo, Derralynn Hughes, David Reyes-Leiva, Aleksandra Dominovic-Kovacevic, Mazen M. Dimachkie, Hernan Amartino, Hani Kushlaf, Barry J. Byrne, Giancarlo Parenti, Henning Andersen, Mark Roberts, Marie Wencel, Jaime Vengoechea
المساهمون: Schoser, B., Roberts, M., Byrne, B. J., Sitaraman, S., Jiang, H., Laforet, P., Toscano, A., Castelli, J., Diaz-Manera, J., Goldman, M., van der Ploeg, A. T., Bratkovic, D., Kuchipudi, S., Mozaffar, T., Kishnani, P. S., Sebok, A., Pestronk, A., Dominovic-Kovacevic, A., Khan, A., Koritnik, B., Tard, C., Lindberg, C., Quinn, C., Eldridge, C., Bodkin, C., Reyes-Leiva, D., Hughes, D., Stefanescu, E., SALORT-CAMPANA, E., Butler, E., Bouhour, F., Kim, G., Konstantinos Papadimas, G., Parenti, G., Bartosik-Psujek, H., Kushlaf, H., Akihiro, H., Lau, H., Pedro, H., Andersen, H., Amartino, H., Shiraishi, H., Kobayashi, H., Tarnev, I., Vengoechea, J., Avelar, J., Shin, J. -H., Cauci, J., Alonso-Perez, J., Janszky, J., Berthy, J., Cornelia, K., Gutschmidt, K., Claeys, K., Judit Molnar, M., Wencel, M., Tarnopolsky, M., Dimachkie, M., Tchan, M., Freimer, M., Longo, N., Vidal-Fernandez, N., Musumeci, O., Goker-Alpan, O., Deegan, P., Clemens, P. R., Roxburgh, R., Henderson, R., Hopkin, R., Sacconi, S., Fecarotta, S., Attarian, S., Wenninger, S., Dearmey, S., Hiwot, T., Burrow, T., Ruck, T., Sawada, T., Laszlo, V., Loscher, W., Chien, Y. -H., Pediatrics
المصدر: LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422(21)00331-8مصطلحات موضوعية: education.field_of_study, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Glycogen Storage Disease Type II, business.industry, Population, alpha-Glucosidases, Enzyme replacement therapy, Placebo, Treatment Outcome, Double-Blind Method, SDG 3 - Good Health and Well-being, Internal medicine, Miglustat, medicine, Clinical endpoint, Humans, Respiratory function, Neurology (clinical), Adverse effect, education, business, Alglucosidase alfa, medicine.drug
-
10
المؤلفون: Pramod K. Mistry, Evgueniy Hadjiev, Sebastiaan J.M. Gaemers, Suma P. Shankar, Marwan Ghosn, Sarit Assouline, Andres Ortega, Heather Lau, Seymour Packman, Sumita Danda, Elena Lukina, M. Judith Peterschmitt, Hagit Baris Feldman, Milan Petakov, Hadhami Ben Turkia, Meredith C. Foster, Atul Mehta, Manisha Balwani
المصدر: American Journal of Hematology
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pyrrolidines, Placebo, Gastroenterology, Young Adult, Double-Blind Method, Internal medicine, medicine, Humans, Substrate reduction therapy, Enzyme Inhibitors, Adverse effect, Pathological, Research Articles, Gaucher Disease, business.industry, Organ Size, Hematology, Placebo Effect, medicine.disease, Osteopenia, Treatment Outcome, Liver, Concomitant, Cohort, Female, business, Spleen, Eliglustat, Research Article