Results 101 to 110 of about 6,677,368 (199)

Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome)

, 2008
We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) ( Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus.
CHEN, CHIH-PING;LIN, SHUAN-PEI;TZEN, CHIN-YUAN;HWU, WUH-LIANG;CHERN, SCHU-RERN;WANG, WAY-SEEN, 陳持平;林炫沛;曾岐元;胡務亮;陳樹人;王偉信   +1 more
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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

CORRIGENDUM: Interim results of the first stage of a multicenter open multi-cohort study of the safety, pharmacokinetics, pharmacodynamics and efficacy of veranafusp alfa in adult patients with mucopolysaccharidosis type II. [Pharmacy & Pharmacology. 2026;14(1):81-96. DOI: 10.19163/2307-9266-2026-14-1-81-96]

Фармация и фармакология (Пятигорск)
Related to the article: Lukina E.A., Ponomarev R.V., Trishina S.V., Gabitova E.S., Vashakmadze N.D., Karkashadze G.A., Namazova-Baranova L.S. Interim results of the first stage of a multicenter open multi-cohort study of the safety, pharmacokinetics ...
Editorial Edit
doaj   +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

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