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1دورية أكاديمية
المؤلفون: Matthew M. Gayed, Seung-Hye Jung, Erin Huggins, Eleanor Rodriguez-Rassi, Stephanie DeArmey, Priya Sunil Kishnani, Ashlee R. Stiles
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 23, p 14938 (2022)
مصطلحات موضوعية: glucosylsphingosine, lyso-Gb1, chitotriosidase, Gaucher disease, biomarkers, long-term treatment, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/23/23/14938Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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2دورية أكاديمية
المصدر: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 82-84 (2017)
مصطلحات موضوعية: Gaucher disease, Thrombocytopenia, Enzyme replacement therapy, Substrate reduction therapy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S221442691730085XTest; https://doaj.org/toc/2214-4269Test
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المؤلفون: Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl
المصدر: Molecular Therapy.
مصطلحات موضوعية: Pharmacology, Drug Discovery, Genetics, Molecular Medicine, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ade7b2b9b5e1c9dfb4eab648fd879c08Test
https://doi.org/10.1016/j.ymthe.2023.02.014Test -
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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: Eleanor Rodriguez-Rassi, Grace Stafford, Seung-Hye Jung, Stephanie DeArmey, Ankit K. Desai, Priya Kishnani
المصدر: Molecular Genetics and Metabolism. 138:107293
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2177d7f70555b1c97017a778c9ff171dTest
https://doi.org/10.1016/j.ymgme.2022.107293Test -
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المؤلفون: Priya S. Kishnani, M. Tariq Bhatti, Cecilia Santiago-Turla, Sidney M. Gospe, Thomas J. Cummings, Stephanie DeArmey
المصدر: Cornea. 38:896-900
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Recombinant Fusion Proteins, Hypophosphatasia, Asymptomatic, Gastroenterology, Conjunctival Diseases, law.invention, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Internal medicine, Biopsy, medicine, Humans, Enzyme Replacement Therapy, Aged, medicine.diagnostic_test, business.industry, Calcinosis, Enzyme replacement therapy, Middle Aged, Alkaline Phosphatase, medicine.disease, Ophthalmology, Immunoglobulin G, Asfotase alfa, 030221 ophthalmology & optometry, Alkaline phosphatase, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Calcification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb43198bbe9ef67e29a3d720dcbf37cdTest
https://doi.org/10.1097/ico.0000000000001947Test -
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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: Mrudu Herbert, Mai K. ElMallah, Harrison N. Jones, Kanecia O. Zimmerman, Stephanie DeArmey, Aleena A. Khan, Laura E. Case, Kelly D. Crisp, Sarah P. Young, Priya S. Kishnani
المصدر: Genet Med
مصطلحات موضوعية: medicine.medical_specialty, Urinary system, Gastroenterology, Article, Pulmonary function testing, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Dosing, Myopathy, Child, Alglucosidase alfa, Genetics (clinical), Retrospective Studies, biology, business.industry, Glycogen Storage Disease Type II, Retrospective cohort study, alpha-Glucosidases, Enzyme replacement therapy, Child, Preschool, biology.protein, Creatine kinase, medicine.symptom, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa0fcc897651ba89c2e890d44b3159cTest
https://europepmc.org/articles/PMC7469631Test/ -
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المؤلفون: Priya S. Kishnani, Mai K. ElMallah, Erica B. Nading, Stephanie DeArmey, Ankit K. Desai, Richard M. Kravitz
المصدر: Pediatr Pulmonol
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Spirometry, Adult, Male, Vital capacity, Pediatrics, medicine.medical_specialty, Supine position, Adolescent, Article, Pulmonary function testing, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, 0302 clinical medicine, 030225 pediatrics, Medicine, Humans, Respiratory function, Enzyme Replacement Therapy, Survivors, Child, medicine.diagnostic_test, business.industry, Glycogen Storage Disease Type II, Enzyme replacement therapy, Respiratory Function Tests, Treatment Outcome, 030228 respiratory system, Pediatrics, Perinatology and Child Health, Cohort, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57832c360381ee213a944e2a045e0f53Test
https://pubmed.ncbi.nlm.nih.gov/31899940Test -
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المؤلفون: Xiaolin Zhu, Gloria T. Haskell, Stephanie DeArmey, Jennifer L. Goldstein, Deeksha Bali, Elizabeth T. Cirulli, Catherine Rehder, Priya S. Kishnani, Zoheb B. Kazi, Mari Mori
المصدر: Molecular Genetics and Metabolism. 122:189-197
مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Genotype, Endocrinology, Diabetes and Metabolism, Metabolic myopathy, Disease, Biology, Bioinformatics, Sensitivity and Specificity, Biochemistry, Article, Late Onset Disorders, Diagnosis, Differential, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Exome Sequencing, Glycogen storage disease type II, Genetics, medicine, Humans, Enzyme Replacement Therapy, Molecular Biology, Exome sequencing, Sanger sequencing, Glycogen Storage Disease Type II, High-Throughput Nucleotide Sequencing, alpha-Glucosidases, Enzyme replacement therapy, medicine.disease, Phenotype, 030104 developmental biology, Mutation, symbols, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94760b4c013de58757592229e0d98eaaTest
https://doi.org/10.1016/j.ymgme.2017.10.008Test