Zobrazeno 1 - 10
of 832
pro vyhledávání: 'Hughes, D. R.'
Autor:
D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evalu
Externí odkaz:
https://doaj.org/article/4721627440df49499df6211cfe57b3d1
Autor:
Linhart A; 2nd Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08, Prague 2, Czech Republic. ales.linhart@vfn.cz., Dostálová G; 2nd Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08, Prague 2, Czech Republic., Nicholls K; Department of Nephrology, Royal Melbourne Hospital and The University of Melbourne, Parkville, Australia., West ML; Division of Nephrology, Department of Medicine, Dalhousie University, Halifax, NS, Canada., Tøndel C; Department of Clinical Science, University of Bergen, Bergen, Norway.; Nephrology and Rheumatology Unit, Department of Pediatrics, Haukeland University Hospital, Bergen, Norway., Jovanovic A; Department of Inherited Metabolic Disease, Salford Royal, Salford, England, UK., Giraldo P; Centro de Investigación Biomédica en Red de Enfermedades Raras, Hospital de Dia Quiron, Zaragoza, Spain., Vujkovac B; Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia., Geberhiwot T; Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, England, UK., Brill-Almon E; Protalix Biotherapeutics, Carmiel, Israel., Alon S; Protalix Biotherapeutics, Carmiel, Israel., Chertkoff R; Protalix Biotherapeutics, Carmiel, Israel., Rocco R; Chiesi Farmaceutici S.p.A., Parma, Italy., Hughes D; Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, England, UK.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 21; Vol. 18 (1), pp. 332. Date of Electronic Publication: 2023 Oct 21.
Autor:
Hughes, D.1 rmgvdah@ucl.ac.uk, Giugliani, R.2, Guffon, N.3, Jones, S. A.4, Mengel, K. E.5, Parini, R.6, Matousek, R.7, Hawley, S. M.7, Quartel, A.7
Publikováno v:
Orphanet Journal of Rare Diseases. 5/23/2017, Vol. 12, p1-8. 8p.
Autor:
D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision-making and improve pathop
Autor:
Dardis, A., Michelakakis, H., Rozenfeld, P., Fumic, K., Wagner, J., Pavan, E., Fuller, M., Revel-Vilk, S., Hughes, D., Cox, T., Aerts, J.
Publikováno v:
Orphanet Journal of Rare Diseases; 12/21/2022, Vol. 17 Issue 1, p1-17, 17p
Akademický článek
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Autor:
Aman, Lucie C. S.1 (AUTHOR) lcsa2@medschl.cam.ac.uk, Lester, Suzannah D.1 (AUTHOR), Holland, Anthony J.1 (AUTHOR), Fletcher, Paul C.1,2,3 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2/15/2024, Vol. 19 Issue 1, p1-24. 24p.
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
Autor:
de Castro, María José1,2 (AUTHOR), Jones, Simon A3,4 (AUTHOR) simonallanjones@gmail.com, de las Heras, Javier5 (AUTHOR), Sánchez-Pintos, Paula1,2 (AUTHOR), Couce, María L1,2 (AUTHOR), Colón, Cristóbal1,2 (AUTHOR), Crujeiras, Pablo1,2 (AUTHOR), Unceta, María5 (AUTHOR), Church, Heather3 (AUTHOR), Brammeier, Kathryn3 (AUTHOR), Yee, Wu Hoi3 (AUTHOR), Cooper, James3 (AUTHOR), López de Frutos, Laura6 (AUTHOR), Serrano-Gonzalo, Irene6 (AUTHOR), Camba, María José1,2 (AUTHOR), White, Fiona J.3 (AUTHOR), Holmes, Victoria3 (AUTHOR), Ghosh, Arunabha3,4 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 6/25/2024, Vol. 19 Issue 1, p1-9. 9p.
Autor:
Chi, Zhaotian1 (AUTHOR), Devine, Rory T.2 (AUTHOR), Wolstencroft, Jeanne3 (AUTHOR), Skuse, David3 (AUTHOR), Hughes, Claire4 (AUTHOR), Baker, Kate1,5 (AUTHOR) kate.baker@mrc-cbu.cam.ac.uk
Publikováno v:
Orphanet Journal of Rare Diseases. 2/15/2024, Vol. 19 Issue 1, p1-10. 10p.
Autor:
Schoen, Meriah S.1 (AUTHOR) msschoe@emory.edu, Boland, Kelly M.2 (AUTHOR), Christ, Shawn E.2 (AUTHOR), Cui, Xiangqin3 (AUTHOR), Ramakrishnan, Usha4 (AUTHOR), Ziegler, Thomas R.5 (AUTHOR), Alvarez, Jessica A.5 (AUTHOR), Singh, Rani H.1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 7/29/2023, Vol. 18 Issue 1, p1-13. 13p.