Results 111 to 120 of about 12,778 (217)

A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. [PDF]

Orphanet J Rare Dis, 2023
Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG.   +5 more
europepmc   +1 more source

Gene therapy for cross-correction of somatic organs and the CNS in mucopolysaccharidosis II in rodents and non-human primates. [PDF]

Mol Ther Methods Clin Dev, 2023
Chen N, Ehmann DE, Crooker R, Derakhchan K, Fang X, Felice B, Galbreath EJ, Glaus C, Gu H, Huang Y, Li C, Li X, Liu N, Palmieri K, Simic D, Sypek J, Thompson S, Winkelmann CT, Choi VW.   +18 more
europepmc   +1 more source

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study. [PDF]

Mol Genet Metab, 2022
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, HGT-HIT-094 Study Group.   +14 more
europepmc   +1 more source

Splicing therapeutics for patients affected by lysosomal storage disorders [PDF]

, 2017
In this study, we have used a modified U1 snRNA that completely matches the splice donor site of HGSNAT gene exon 2, which corrected the effect of the common 5’ splice site mutation c.234+1G>A in Mucopolysaccharidosis IIIC.
Alves, Sandra, Canals, Isaac, Gonçalves, Vânia, Grinberg, Daniel, Jordan, Peter, Matos, Liliana, Prata, Maria João, Pérez, Belén   +7 more
core  

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II. [PDF]

Mol Genet Metab, 2022
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, SHP609-302 study group.   +14 more
europepmc   +1 more source

Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. [PDF]

Mol Ther Methods Clin Dev, 2022
Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K.   +6 more
europepmc   +1 more source

Clinical Characteristics and Healthcare Resource Utilization for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review. [PDF]

J Health Econ Outcomes Res, 2022
Ayodele O, Müller K, Setayeshgar S, Alexanderian D, Yee KS.   +4 more
europepmc   +1 more source

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data. [PDF]

Int J Mol Sci, 2021
Giugliani R, Martins AM, Okuyama T, Eto Y, Sakai N, Nakamura K, Morimoto H, Minami K, Yamamoto T, Yamaoka M, Ikeda T, So S, Tanizawa K, Sonoda H, Schmidt M, Sato Y.   +15 more
europepmc   +1 more source

Impact of the Timing of Enzyme Replacement Therapy Initiation and Cognitive Impairment Status on Outcomes for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review. [PDF]

J Health Econ Outcomes Res, 2022
Yee KS, Alexanderian D, Feng Y, Ren X, Schweikert B, Ayodele O.   +5 more
europepmc   +1 more source

Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II. [PDF]

Orphanet J Rare Dis, 2021
Lin HY, Chen MR, Lee CL, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP.   +8 more
europepmc   +1 more source