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1دورية أكاديمية
المؤلفون: John Bernat, Eric Wallace, Ozlem Goker-Alpan, William Wilcox, Myrl Holida, Nicola Longo, Derralynn Hughes, Pilar Giraldo, Maria Molnar, Damara Ortiz, Robert Hopkin, Camilla Tondel, Ales Linhart, Patrick Deegan, Ana Jovanovic, Michael Muriello, Bruce Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Hiwot, Antonio Pisani, Dominique Germain, Ilkka Kantola, Jasmine Knoll, Ankit Mehta, Stephen Waldek, Einat Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, David Warnock
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100015- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000158Test; https://doaj.org/toc/2949-7744Test
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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/S1474-4422Test(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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca8d17d8a65ecd5fd078c358714459bTest
https://doi.org/10.1016/s1474-4422Test(21)00331-8 -
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المؤلفون: Tarekegn Hiwot, Nigel Lewis, Thomas A. Nelson, Jonathan Sahu, Andreas L Kyriacou, Justin Lee, Nicholas F. Kelland, Mark T Mills
المصدر: European Heart Journal: Case Reports
مصطلحات موضوعية: medicine.medical_specialty, Radiofrequency ablation, medicine.medical_treatment, Catheter ablation, Ventricular tachycardia, law.invention, law, Cardiac magnetic resonance imaging, Internal medicine, medicine, Case Series, AcademicSubjects/MED00200, Anderson–Fabry disease, Ejection fraction, medicine.diagnostic_test, business.industry, Cardiac arrhythmia, medicine.disease, medicine.anatomical_structure, Ventricle, Heart failure, cardiovascular system, Cardiology, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38690dd7d2f9c50f9c4c2f751aafe188Test
https://doi.org/10.1093/ehjcr/ytaa529Test -
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المؤلفون: Stella Mazurová, John W. Day, Mazen M. Dimachkie, Sónia Tizon, Anna Kostera-Pruszczyk, Tahseen Mozaffar, Joel Charrow, Chafic Karam, Ricardo Maré, Jean-Baptiste Noury, Dewi Guellec, Jorge Alonso-Pérez, Acary Souza Bulle Oliveira, Loren D M Pena, Tianyue Zhou, Sergey Illarioshkin, Nathan Thibault, Marcelo Rugiero, Can Ebru Bekircan-Kurt, Lauren Chase, Monica Sciacco, Mamatha Pasnoor, Jenny Billy, Mark Tarnopolsky, Fabien Zagnoli, Marie Wencel, Sevim Erdem-Ozdamar, Erin Hatcher, Madoka Mori, Céline Tard, Nicolas Mavroudakis, Emmanuelle Salort-Campana, Antonio Toscano, Shafeeq Ladha, Angela Genge, Ans T. van der Ploeg, Michela Guglieri, Judith Johnson, Fanny Duval, Loïc Danjoux, Christopher Hug, Robert D. Henderson, Robert Neel, Luca Solera, Aleksandra Nadaj-Pakleza, Silvia Boschi, Nizar Chahin, Maurizio Gualtiero Moggio, Peter Young, Priya S. Kishnani, Yin-Hsiu Chien, Alexandra Kautzky-Willer, Claire Questienne, Francoise Bouhour, Gabriela A Niizawa, Ekaterina Fedotova, Tiziana Enrica Mongini, Harmke A. van Kooten, Vera Malinova, Sina Helms, Shahram Attarian, Patrick Deegan, Guilhem Sole, Hamilton Cirne, Ludwig Gutmann, Kenneth I. Berger, Laura Carrera Garcia, N A M E van der Beek, Stephanie Dearmey, Suzara Souto Lopes, Anna Potulska-Chromik, Joao Lindolfo Borges, Yesim Parman, Michaela Riedl, Sergey A. Klyushnikov, Olivier Huynh-Ba, Gauthier Remiche, Paula R. Clemens, Andrea Swenson, Stephan Wenninger, Miriam Hufgard-Leitner, Eugen Mengel, Kristina An Haack, Eve Gandolfo, David Reyes-Leiva, Jean-Baptiste Davion, Chester Whitley, Young Chul Choi, Patricia Altemus, Maria Judit Molnar, Perry B. Shieh, Matthias Vorgerd, Julia B Hennermann, Cheryl Smith, Volker Straub, Lauren Noll, Pascal Laforet, Andres Nascimento Osorio, Clarisa Maxit, Anne-Catherine Aubé-Nathier, Ozlem Goker-Alpan, Olimpia Musumeci, Louisa Müller-Miny, Tarekegn Hiwot, Jacqui Langton, Christopher Nance, Daniel Natera-de Benito, Jeffrey Statland, Nicola Longo, Vivien Pautot, Zoltan Grosz, Thomas Stulnig, Matthias Boentert, Anne-Katrin Guettsches, Chong Yew Tan, Erik Ortega, Derralynn Hughes, Hacer Durmus Tekce, Mark Roberts, Lenka Linková, Amel Karaa, Hani Kushlaf, Anthony Behin, Margarida Ramos Lopes, Jordi Diaz-Manera, Alessia Pugliese, Paulo Victor Sgobbi Souza, Carrie Bailey, Jennifer B Avelar, Hirofumi Komaki, Frederic Taithe, Benedikt Schoser, Sabine Specht, Kathryn E Brown, Gerson Carvalho
المساهمون: Pediatrics
المصدر: The Lancet Neurology, 20(12), 1012-1026. Lancet Publishing Group
مصطلحات موضوعية: medicine.medical_specialty, Population, Walking, FEV1/FVC ratio, stomatognathic system, SDG 3 - Good Health and Well-being, Double-Blind Method, Internal medicine, Statistical significance, Child, Preschool, Enzyme Replacement Therapy, Humans, Treatment Outcome, Glycogen Storage Disease Type II, alpha-Glucosidases, medicine, Respiratory function, Adverse effect, education, Child, Preschool, Alglucosidase alfa, education.field_of_study, business.industry, Standard treatment, virus diseases, Enzyme replacement therapy, Neurology (clinical), business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070f1f6f1e025674e4ced58aa9218fbfTest
http://hdl.handle.net/11570/3218654Test -
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المؤلفون: Camilla Tøndel, Sari Alon, Ana Jovanovic, Gabriela Dostálová, Kathy Nicholls, Einat Almon, Deralynn Hughes, Bojan Vujkovac, Aleš Linhart, Michael West, Pilar Giraldo, Raul Chertkoff, Tarekegn Hiwot, Mali Szlaifer
المصدر: Molecular Genetics and Metabolism. 132:S107-S108
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Biochemistry, Fabry disease, Bridge (interpersonal), Endocrinology, Genetics, medicine, business, Molecular Biology, Agalsidase alfa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::de670780ddd7d6f383112fe8246422dbTest
https://doi.org/10.1016/s1096-7192Test(21)00248-1 -
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المؤلفون: Sari Alon, Gabriela Dostálová, Pilar Giraldo, Ana Jovanovic, Camilla Tøndel, Michael West, Einat Brill-Almon, Aleš Linhart, Mali Szlaifer, Derralynn Hughes, Kathy Nicholls, Raul Chertkoff, Tarekegn Hiwot, Bojan Vujkovac
المصدر: Molecular Genetics and Metabolism. 129:S98-S99
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Biochemistry, Fabry disease, Bridge (interpersonal), Surgery, Endocrinology, Open label study, Genetics, medicine, business, Molecular Biology, Agalsidase alfa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::599d6ff02e4c027e1b632aa1d08ebc16Test
https://doi.org/10.1016/j.ymgme.2019.11.249Test -
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المؤلفون: Neil Gittoes, Hyunseo Kim, Tarekegn Hiwot, Sherwin Criseno
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Osteoporosis, Urology, Medicine, Kidney stones, In patient, business, medicine.disease, Primary hyperparathyroidism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::84a950a9e9dce7446124a9b08d24f408Test
https://doi.org/10.1530/endoabs.56.p276Test -
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المؤلفون: Sherwin Criseno, Neil Gittoes, Tarekegn Hiwot
المصدر: Endocrine Abstracts.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::341c543007734b604bc67c346a5a8716Test
https://doi.org/10.1530/endoabs.50.p061Test -
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المؤلفون: C. Heusner, W. Dummer, Claude Desnuelle, Richard J. Barohn, Eugen Mengel, Drago Bratkovic, Pascal Laforêt, Derralynn Hughes, Ke Yang, Barry J. Byrne, Mark Roberts, Tarekegn Hiwot
المصدر: Neuromuscular Disorders. 25:S313-S314
مصطلحات موضوعية: Neurology, business.industry, Extension study, Pediatrics, Perinatology and Child Health, Medicine, Recombinant human acid alpha-glucosidase, Late onset, Neurology (clinical), Disease, Clinical efficacy, business, Virology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6a51ae566da828b29bd7661ea20e3297Test
https://doi.org/10.1016/j.nmd.2015.06.453Test -
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المؤلفون: W. Dummer, Eugen Mengel, Peter Young, Derralynn Hughes, Tahseen Mozaffar, Tarekegn Hiwot, F. Eyskens, Barry J. Byrne, Mark Roberts, Benedikt Schoser, John T. Kissel, Jeffrey Statland, K. Sivakumar, C. Heusner, Alan Pestronk
المصدر: Neuromuscular Disorders. 25:S189
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Switchover, Medicine, Late onset, Neurology (clinical), Disease, business, Genetics (clinical), Surgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::09d501c960f3440fa38e6ca4aa036737Test
https://doi.org/10.1016/j.nmd.2015.06.023Test