Results 101 to 110 of about 5,715,301 (195)

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

Diagnostic and treatment strategies in mucopolysaccharidosis VI

, 2015
Filippo Vairo,1–3 Andressa Federhen,1,3,4 Guilherme Baldo,1,2,5–7 Mariluce Riegel,1,6 Maira Burin,1 Sandra Leistner-Segal,1,8 Roberto Giugliani1,5,6,81Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil;
Federhen A, Leistner-Segal S, Giugliani R, Vairo F, Burin M, Baldo G, Riegel M   +6 more
core  

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

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS). [PDF]

Orphanet J Rare Dis, 2021
Muenzer J, Botha J, Harmatz P, Giugliani R, Kampmann C, Burton BK.   +5 more
europepmc   +1 more source

P012: Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)

Genetics in Medicine Open, 2023
Taraka Donti, Sara Smith, Sasha Chernenkoff, Madeline Ellgass, Madhuri Hegde   +4 more
doaj   +1 more source

An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II. [PDF]

BMC Health Serv Res
Stepien KM, Ayodele O, Muenzer J, Giugliani R, Jackson C, Meade L, Scarpa M, Lampe C, Audi J, Jain S, Toro MD.   +10 more
europepmc   +1 more source