المؤلفون: Finkel, RS, Mercuri, E, Darras, BT, Connolly, AM, Kuntz, NL, Kirschner, J, Chiriboga, CA, Saito, K, Servais, L, Tizzano, E, Topaloglu, H, Tulinius, M, Montes, J, Glanzman, AM, Bishop, K, Zhong, ZJ, Gheuens, S, Bennett, CF, Schneider, E, Farwell, W, De Vivo, DC, Bradley, WG, Schroth, MK, Bodensteriner, JB, Davis, CS, Shell, R, Hen, J, Austin, ED, Aziz-Zaman, S, Cappell, J, Constantinescu, A, Cruz, R, Dastgir, J, Dunaway, S, Engelstad, K, Gormley, M, Holuba La Marca, N, Khandji, A, Kramer, S, Marra, J, Ortiz-Miller, C, Popolizio, M, Salazar, R, Sanabria, L, Weimer, L, Anand, P, Gadeken, R, Golumbek, PT, Siener, C, Zaidman, CM, Al-Ghamdi, F, Berde, C, Ghosh, P, Graham, R, Harrington, T, Koka, A, Laine, R, Liew, W, Mirek, E, Ordonez, G, Pasternak, A, Quigley, J, Sethna, N, Souris, M, Szelag, H, Wand, L, Day, JW, D'Souza, G, Duong, TT, Gee, R, Kitsuwa-Lowe, J, McFall, D, Patnaik, S, Paulose, S, Perez, J, Proud, C, Purse, B, Ramamurthi, RJ, Sakamuri, S, Sampson, J, Sanjanwala, B, Tesi Rocha, AC, Watson, K, Welsh, L, Pena, LDM, Case, L, Coates, J, DeArmey, S, Homi, MM, Milleson, C, Nelson, N, Ross, A, Smith, E, Taicher, B, Wootton, J, Finanger, E, Benjamin, D, Frank, A, Roberts, C, Russman, B, Farrar, Michelle, Kandula, Tejaswi

المصدر: urn:ISSN:0028-4793 ; urn:ISSN:1533-4406 ; New England Journal of Medicine, 377, 18, 1723-1732

مصطلحات موضوعية: Brain Disorders, Pediatric, Clinical Research, Neurosciences, Genetics, Clinical Trials and Supportive Activities, Orphan Drug, Spinal Muscular Atrophy, Neurodegenerative, Patient Safety, Rare Diseases, Neurological, 3 Good Health and Well Being, Age of Onset, Disease-Free Survival, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Male, Motor Skills, Oligonucleotides, Antisense, RNA, Messenger, Respiration, Artificial, Spinal Muscular Atrophies of Childhood

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_49227Test; https://unsworks.unsw.edu.au/bitstreams/8464c3c3-9df7-43a0-be50-b5125661ad27/downloadTest; https://doi.org/10.1056/NEJMoa1702752Test

الإتاحة: https://doi.org/10.1056/NEJMoa1702752Test
http://hdl.handle.net/1959.4/unsworks_49227Test
https://unsworks.unsw.edu.au/bitstreams/8464c3c3-9df7-43a0-be50-b5125661ad27/downloadTest

المؤلفون: Diaz-Manera J., Kishnani P. S., Kushlaf H., Ladha S., Mozaffar T., Straub V., Toscano A., van der Ploeg A. T., Berger K. I., Clemens P. R., Chien Y. -H., Day J. W., Illarioshkin S., Roberts M., Attarian S., Borges J. L., Bouhour F., Choi Y. C., Erdem-Ozdamar S., Goker-Alpan O., Kostera-Pruszczyk A., Haack K. A., Hug C., Huynh-Ba O., Johnson J., Thibault N., Zhou T., Dimachkie M. M., Schoser B., Behin A., Boentert M., Carvalho G., Chahin N., Charrow J., Deegan P., Durmus Tekce H., Duval F., Genge A., Gutmann L., Henderson R. D., Hennermann J. B., Hiwot T., Hughes D., Karaa A., Karam C., Kautzky-Willer A., Komaki H., Laforet P., Longo N., Malinova V., Mare R., Maxit C., Mengel E., Moggio M. G., Molnar M. J., Mongini T. E., Nadaj-Pakleza A., Nascimento Osorio A., Noury J. -B., Oliveira A. S. B., Parman Y., Pena L., Remiche G., Sciacco M., Shieh P. B., Smith C., Stulnig T., Taithe F., Tard C., Tarnopolsky M., Vorgerd M., Whitley C., Young P., Alonso-Perez J., Altemus P., Aube-Nathier A. -C., Avelar J. B., Bailey C., Bekircan-Kurt C. E., Billy J., Boschi S., Brown K. E., Carrera Garcia L., Chase L., Cirne H., Danjoux L., Davion J. -B., DeArmey S., Fedotova E., Gandolfo E., Grosz Z., Guellec D., Guettsches A. -K., Guglieri M., Hatcher E., Helms S., Hufgard-Leitner M., Klyushnikov S. A., Langton J., Linkova L., Mavroudakis N., Mazurova S., Mori M., Muller-Miny L., Musumeci O., Nance C. S., Natera-de Benito D., Neel R., Niizawa G. A., Noll L., Ortega E., Pasnoor M., Pautot V., Potulska-Chromik A., Pugliese A., Questienne C., Ramos Lopes M., Reyes-Leiva D., Riedl M., Rugiero M. F., Salort-Campana E., Sgobbi Souza P. V., Sole G., Solera L., Souto Lopes S., Specht S., Statland J., Swenson A., Tan C. Y., Tizon S., van der Beek N. A. M. E., van Kooten H. A., Wencel M., Wenninger S., Zagnoli F.

المساهمون: Diaz-Manera J., Kishnani P.S., Kushlaf H., Ladha S., Mozaffar T., Straub V., Toscano A., van der Ploeg A.T., Berger K.I., Clemens P.R., Chien Y.-H., Day J.W., Illarioshkin S., Roberts M., Attarian S., Borges J.L., Bouhour F., Choi Y.C., Erdem-Ozdamar S., Goker-Alpan O., Kostera-Pruszczyk A., Haack K.A., Hug C., Huynh-Ba O., Johnson J., Thibault N., Zhou T., Dimachkie M.M., Schoser B., Behin A., Boentert M., Carvalho G., Chahin N., Charrow J., Deegan P., Durmus Tekce H., Duval F., Genge A., Gutmann L., Henderson R.D., Hennermann J.B., Hiwot T., Hughes D., Karaa A., Karam C., Kautzky-Willer A., Komaki H., Laforet P., Longo N., Malinova V., Mare R., Maxit C., Mengel E., Moggio M.G., Molnar M.J., Mongini T.E., Nadaj-Pakleza A., Nascimento Osorio A., Noury J.-B., Oliveira A.S.B., Parman Y., Pena L., Remiche G., Sciacco M., Shieh P.B., Smith C., Stulnig T., Taithe F., Tard C., Tarnopolsky M., Vorgerd M., Whitley C., Young P., Alonso-Perez J., Altemus P., Aube-Nathier A.-C., Avelar J.B., Bailey C., Bekircan-Kurt C.E., Billy J., Boschi S., Brown K.E., Carrera Garcia L., Chase L., Cirne H., Danjoux L., Davion J.-B., DeArmey S., Fedotova E., Gandolfo E., Grosz Z., Guellec D., Guettsches A.-K., Guglieri M., Hatcher E., Helms S., Hufgard-Leitner M., Klyushnikov S.A., Langton J., Linkova L.

مصطلحات موضوعية: Child, Preschool, Double-Blind Method, Enzyme Replacement Therapy, Human, Treatment Outcome, Walking, Glycogen Storage Disease Type II, alpha-Glucosidases

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34800399; info:eu-repo/semantics/altIdentifier/wos/WOS:000755602800026; volume:20; issue:12; firstpage:1012; lastpage:1026; numberofpages:15; journal:LANCET NEUROLOGY; http://hdl.handle.net/2318/1858772Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119210138

الإتاحة: https://doi.org/10.1016/S1474-4422Test(21)00241-6
http://hdl.handle.net/2318/1858772Test

المؤلفون: 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.

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.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000755602800027; volume:20; issue:12; firstpage:1027; lastpage:1037; numberofpages:11; journal:LANCET NEUROLOGY; http://hdl.handle.net/11588/870280Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119194577

الإتاحة: https://doi.org/10.1016/S1474-4422Test(21)00331-8
http://hdl.handle.net/11588/870280Test

المؤلفون: Prakalapakorn, S. G., Proia, A. D., Yanovitch, T. L., DeArmey, S., Mendelsohn, N. J., Aleck, K. A., Kishani, P. S.

المصدر: Osteopathic Medicine, Jerry M. Wallace School of

مصطلحات موضوعية: Osteopathic Medicine and Osteopathy

العلاقة: https://cufind.campbell.edu/medicine_school/449Test

الإتاحة: https://cufind.campbell.edu/medicine_school/449Test

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)00331-8

مصطلحات 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