Zobrazeno 1 - 10
of 359
pro vyhledávání: '"mucopolysaccharidosis type iii"'
Autor:
Eleonore M. Corazolla, Eline C. B. Eskes, Jorien Veldwijk, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background Gene therapy is currently in development for several monogenetic diseases including lysosomal storage disorders. Limited evidence is available on patient preferences for gene therapy in this population. In this study, we compare g
Externí odkaz:
https://doaj.org/article/6aa6f1ea34a14fd6949ec163980388bd
Autor:
Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Introduction Several new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression differ greatly within t
Externí odkaz:
https://doaj.org/article/9d1b47e77b6549928fc8f4ca8c8e1114
Autor:
Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton, Cara O’Neill, MPS III Guideline Development Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-23 (2022)
Abstract Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisy
Externí odkaz:
https://doaj.org/article/a5ad5c79ef39448c83fadab522d1e902
Akademický článek
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Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 15, Pp 2097-2110 (2022)
Zuzanna Cyske,1 Paulina Anikiej-Wiczenbach,2 Karolina Wisniewska,1 Lidia Gaffke,1 Karolina Pierzynowska,1 Arkadiusz Mański,2 Grzegorz Wegrzyn1 1Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, 80-308, Poland;
Externí odkaz:
https://doaj.org/article/df17ed6d4fd244d4bf37914956d97078
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
I. Bekiroglu, J. D. Tobias
Publikováno v:
Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 9, Iss 1, Pp 30-35 (2021)
The mucopolysaccharidoses (MPS) are a group of inherited conditions with lysosomal enzymatic deficiencies re- sulting in the inability to metabolize glycosaminoglycans. The MPS are separated into 7 major types, based on the underlying enzymatic defec
Externí odkaz:
https://doaj.org/article/4ecbe46dcd474c38a2019632003e55c8
Autor:
Sandra Rafaela Breyer, Eik Vettorazzi, Leonie Schmitz, Amit Gulati, Katharina Maria von Cossel, Alexander Spiro, Martin Rupprecht, Ralf Stuecker, Nicole Maria Muschol
Publikováno v:
Journal of Orthopaedic Surgery and Research, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MP
Externí odkaz:
https://doaj.org/article/7d4e15b449094098a01c733a9cd406b2
Autor:
Helen Beard, Glyn Chidlow, Daniel Neumann, Nazzmer Nazri, Meghan Douglass, Paul J. Trim, Marten F. Snel, Robert J. Casson, Kim M. Hemsley
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Abstract Sanfilippo syndrome is an untreatable form of childhood-onset dementia. Whilst several therapeutic strategies are being evaluated in human clinical trials including i.v. delivery of AAV9-based gene therapy, an urgent unmet need is the availa
Externí odkaz:
https://doaj.org/article/0622df76e85343deb9698b08b762440d
Autor:
Rita Barone, Agata Fiumara, Mariangela Gulisano, Lara Cirnigliaro, Maria Donatella Cocuzza, Claudia Guida, Fabio Pettinato, Filippo Greco, Maurizio Elia, Renata Rizzo
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Mucopolysaccharidosis III (Sanfilippo syndromes) types A–D are rare lysosomal storage disorders characterized by heparan sulfate accumulation and neurodegeneration. Patients with MPS III present with developmental stagnation and/or regression, slee
Externí odkaz:
https://doaj.org/article/2eccf09db1e842d2b77e6513729579f8