PMC Articles for MedGen (Select 7734) - PMC

Links from MedGen

Items: 1 to 20 of 232

<< First< Prev

Page of 12

Select item 109266131.

Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II

Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano, David Alexanderian

Orphanet J Rare Dis. 2024; 19: 110. Published online 2024 Mar 10. doi: 10.1186/s13023-024-03034-y

PMCID:: PMC10926613

Article PDF–1.1M

Select item 109217132.

Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan

Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt, Yuji Sato

Orphanet J Rare Dis. 2024; 19: 104. Published online 2024 Mar 7. doi: 10.1186/s13023-024-03112-1

PMCID:: PMC10921713

Article PDF–1.0M

Select item 108264563.

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

Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar-Feigenberg, Drago Bratkovic, Michael Hale, Yuna Wu, Karen S. Yee, David A.H. Whiteman, David Alexanderian

Mol Genet Metab. Author manuscript; available in PMC 2024 Jan 30.

Published in final edited form as: Mol Genet Metab. 2022 Sep-Oct; 137(1-2): 92–103. Published online 2022 Aug 2. doi: 10.1016/j.ymgme.2022.07.016

Correction in:: Mol Genet Metab. 2023 Jul 28 : 107646.

PMCID:: PMC10826456

Article PDF–1.1M

Select item 108264244.

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

Mol Genet Metab. Author manuscript; available in PMC 2024 Jan 30.

Published in final edited form as: Mol Genet Metab. 2022 Sep-Oct; 137(1-2): 127–139. Published online 2022 Aug 2. doi: 10.1016/j.ymgme.2022.07.017

Correction in:: Mol Genet Metab. 2023 Aug 3 : 107645.

PMCID:: PMC10826424

Article PDF–874K

Select item 107641995.

Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey

Bianca Link, Jaco Botha, Roberto Giugliani

JIMD Rep. 2024 Jan; 65(1): 17–24. Published online 2023 Nov 27. doi: 10.1002/jmd2.12401

PMCID:: PMC10764199

Article PDF–926K

Select item 106947556.

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey

Heather Lau, Paul Harmatz, Jaco Botha, Jennifer Audi, Bianca Link

Mol Genet Metab Rep. 2023 Dec; 37: 101005. Published online 2023 Sep 8. doi: 10.1016/j.ymgmr.2023.101005

PMCID:: PMC10694755

Article PDF–906K

Select item 106526327.

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

Joseph Muenzer, Barbara K. Burton, Hernan M. Amartino, Paul R. Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian, Simon A. Jones

Orphanet J Rare Dis. 2023; 18: 357. Published online 2023 Nov 16. doi: 10.1186/s13023-023-02805-3

PMCID:: PMC10652632

Article PDF–2.6M

Select item 106309428.

Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice

Atsushi Imakiire, Hideto Morimoto, Hidehiko Suzuki, Tomomi Masuda, Eiji Yoden, Asuka Inoue, Hiroki Morioka, Takashi Konaka, Ayaka Mori, Ryoji Shirasaka, Ryo Kato, Tohru Hirato, Hiroyuki Sonoda, Kohtaro Minami

Mol Pharm. 2023 Nov 6; 20(11): 5901–5909. Published online 2023 Oct 20. doi: 10.1021/acs.molpharmaceut.3c00736

PMCID:: PMC10630942

Article PDF–4.9M

Select item 106210869.

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

Karen S. Yee, Costel Chirila, Eric Davenport, Deirdre Mladsi, Christine Barnett, William G. Kronenberger

Orphanet J Rare Dis. 2023; 18: 343. Published online 2023 Nov 2. doi: 10.1186/s13023-023-02957-2

PMCID:: PMC10621086

Article PDF–901K

Select item 1028518510.

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

Nancy Chen, David E. Ehmann, Robert Crooker, Katayoun Derakhchan, Xiaodong Fang, Brian Felice, Elizabeth J. Galbreath, Charles Glaus, Hongbo Gu, Yan Huang, Christine Li, Xing Li, Nan Liu, Kathleen Palmieri, Damir Simic, Joseph Sypek, Susan Thompson, Christopher T. Winkelmann, Vivian W. Choi

Mol Ther Methods Clin Dev. 2023 Jun 8; 29: 286–302. Published online 2023 Mar 28. doi: 10.1016/j.omtm.2023.03.014

PMCID:: PMC10285185

Article PDF–6.9M

Select item 1005758411.

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines

Viktoriia Sofronova, Elizaveta Gurinova, Diana Petukhova, Hiroko Fukamatsu, Takenobu Yamamoto, Yumi Aoyama, Polina Golikova, Gavril Moskvitin, Roza Ivanova, Mira Savvina, Filipp Vasilev, Takahito Moriwaki, Seigo Terawaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo

Int J Mol Sci. 2023 Mar; 24(6): 5647. Published online 2023 Mar 15. doi: 10.3390/ijms24065647

PMCID:: PMC10057584

Article PDF–1.5M

Select item 942453812.

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

Karen S. Yee, David Alexanderian, Yidie Feng, Xiaowei Ren, Bernd Schweikert, Olulade Ayodele

J Health Econ Outcomes Res. 2022; 9(2): 67–76. Published online 2022 Aug 29. doi: 10.36469/001c.36540

PMCID:: PMC9424538

Article PDF–956K

Select item 914269213.

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

Hideto Morimoto, Hiroki Morioka, Atsushi Imakiire, Ryuji Yamamoto, Tohru Hirato, Hiroyuki Sonoda, Kohtaro Minami

Mol Ther Methods Clin Dev. 2022 Jun 9; 25: 534–544. Published online 2022 May 10. doi: 10.1016/j.omtm.2022.05.002

PMCID:: PMC9142692

Article PDF–2.8M

Select item 909823014.

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

Olulade Ayodele, Kersten Müller, Solmaz Setayeshgar, David Alexanderian, Karen S. Yee

J Health Econ Outcomes Res. 2022; 9(1): 117–127. Published online 2022 May 12. doi: 10.36469/jheor.2022.33801

PMCID:: PMC9098230

Article PDF–1.9M

Select item 864300815.

Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II

Karen S. Yee, Yanyu Wu, Magdalena Harrington, Susan E. Waisbren

Orphanet J Rare Dis. 2021; 16: 501. Published online 2021 Dec 4. doi: 10.1186/s13023-021-02118-3

PMCID:: PMC8643008

Article PDF–1.3M

Select item 855700616.

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)

Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann, Barbara K. Burton

Orphanet J Rare Dis. 2021; 16: 456. Published online 2021 Oct 30. doi: 10.1186/s13023-021-02052-4

PMCID:: PMC8557006

Article PDF–2.2M

Select item 853565117.

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

Roberto Giugliani, Ana Maria Martins, Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai, Kimitoshi Nakamura, Hideto Morimoto, Kohtaro Minami, Tatsuyoshi Yamamoto, Mariko Yamaoka, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Hiroyuki Sonoda, Mathias Schmidt, Yuji Sato

Int J Mol Sci. 2021 Oct; 22(20): 10938. Published online 2021 Oct 10. doi: 10.3390/ijms222010938

PMCID:: PMC8535651

Article PDF–3.2M

Select item 813415918.

Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II

L. Vedolin, I.V.D. Schwartz, M. Komlos, A. Schuch, A.C. Puga, L.L.C. Pinto, A.P. Pires, R. Giugliani

AJNR Am J Neuroradiol. 2007 Jun; 28(6): 1029–1033. doi: 10.3174/ajnr.A0510

PMCID:: PMC8134159

Article PDF–173K

Select item 796547019.

Correlation of Automated Volumetric Analysis of Brain MR Imaging with Cognitive Impairment in a Natural History Study of Mucopolysaccharidosis II

Z. Fan, M. Styner, J. Muenzer, M. Poe, M. Escolar

AJNR Am J Neuroradiol. 2010 Aug; 31(7): 1319–1323. doi: 10.3174/ajnr.A2032

PMCID:: PMC7965470

Article PDF–1.5M

Select item 790368220.

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

Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin

Orphanet J Rare Dis. 2021; 16: 99. Published online 2021 Feb 23. doi: 10.1186/s13023-021-01743-2

PMCID:: PMC7903682

Article PDF–952K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 232

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity