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1. Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II NSTL国家科技图书文献中心

Joseph Muenzer | Barbara K. Burton ... - 《Journal of inherited metabolic disease》 - 2025,48(3) - e12790～e12790 - 共11页

摘要：Abstract Mucopolysaccharidosis* II (MPS II* | siblings with MPS II enrolled in clinical trials: a | Ability (DAS‐II GCA) scores; Bayley Scales of Infant and | Behavior Composite (VABS‐II ABC). Seven sets of siblings | of cognitive function: DAS‐II GCA and VABS‐II ABC

关键词： cognitive function | enzyme replacement therapy | idursulfase | intrathecal | neuronopathic mucopolysaccharidosis II | siblings

2. Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II NSTL国家科技图书文献中心

Kwak, Ji Hee | Choi, Yong Jun ... - 《Journal of inherited metabolic disease》 - 2025,48(1) - e12779～e12779 - 共12页

摘要：Mucopolysaccharidosis type II (MPS II) is a | MPS II are lacking. This study evaluated the | therapy (ERT) in patients with MPS II in South Korea. In | patients with MPS II over a 14-year period to investigate | survival in patients with MPS II. This underscores the

关键词： cardiovascular diseases | enzyme replacement therapy | MACE | mucopolysaccharidosis II | risk factors

3. Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy NSTL国家科技图书文献中心

Kampmann, Christoph | Lampe, Christina ... - 《Journal of inherited metabolic disease》 - 2025,48(1) - e12808～e12808 - 共11页

摘要：Mucopolysaccharidosis II (MPS II, Hunter | matrix of heart valves, which can be affected in MPS II | disease in MPS II and the impact of long-term | that valve disease severity in MPS II correlates with | syndrome) is a rare, X-linked lysosomal storage disease

关键词： glycosaminoglycans | heart valve disease | Hunter syndrome | lysosomal storage disorder

4. Disturbances in mitochondrial bioenergetics and control quality and unbalanced redox homeostasis in the liver of a mouse model of mucopolysaccharidosis type II NSTL国家科技图书文献中心

Pinheiro, Camila Vie... | Ribeiro, Rafael Teix...... - 《Molecular and Cellular Biochemistry》 - 2025,480(1) - 411～424 - 共14页

摘要：Mucopolysaccharidosis type II (MPS II; Hunter | mitochondrial dynamics in the liver of 6-month-old MPS II mice | were increased in the liver of MPS II mice | ) in the liver of MPS II mice. We also demonstrate | syndrome) is a lysosomal storage disease caused by

关键词： Mucopolysaccharidosis type II | Mitochondrial bioenergetics | Mitochondrial dynamics | Redox homeostasis | Liver | MPS II mice

5. Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis NSTL国家科技图书文献中心

Farjallah, Asma | Maranda, Bruno ... - 《Metabolomics》 - 2025,21(2) - Article: 35～Article: 35 - 共12页

摘要：IntroductionMucopolysaccharidosis type II | of lipid pathways in neuronopathic MPS type II. A | biomarkers in the plasma and urine of a MPS II patient | MPS II. | (Hunter* syndrome) is an X-linked recessive disorder*

关键词： Lipids | Neurodegeneration | Mass spectrometry | Lysosomal storage disease

6. Development of a novel tool for individual treatment trials in mucopolysaccharidosis NSTL国家科技图书文献中心

Wiesinger, Anna-Mari... | Bigger, Brian ... - 《Journal of inherited metabolic disease》 - 2025,48(1) - e12816～e12816 - 共14页

摘要：Mucopolysaccharidosis (MPS) encompasses a | treatment targets and immunomodulators in MPS; (ii | group of genetic lysosomal storage disorders, linked | to reduced life expectancy and a significant lack | of effective treatment options. Immunomodulatory

关键词： decision analysis framework | immunomodulation | individual treatment trials | mucopolysaccharidosis | personalized medicine | repurposing | risk-benefit assessment | risk–benefit assessment

7. Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage NSTL国家科技图书文献中心

Fabio Catalano | Eva C Vlaar ... - 《Human gene therapy》 - 2024,35(7/8) - 256～268 - 共13页

摘要：) causes Mucopolysaccharidosis* type II (MPS II), a* | murine model of MPS II. In this study, we report on the | Deficiency of iduronate 2-sulfatase (IDS | lysosomal storage disorder characterized by systemic | accumulation of glycosaminoglycans (GAGs), leading to a

关键词： ApoE2 | Hunter syndrome | IDS | IGF2 | Mucopolysaccharidosis type II | RAP | lentiviral gene therapy | macrophage engraftment.

8. Establishment of the Effectiveness of Early Versus Late Stem Cell Gene Therapy in Mucopolysaccharidosis II for Treating Central Versus Peripheral Disease NSTL国家科技图书文献中心

Oriana Molfo | Aiyin Liao ... - 《Human gene therapy》 - 2024,35(7/8) - 243～255 - 共13页

摘要：Mucopolysaccharidosis type II (MPSII) is a | rare pediatric X-linked lysosomal storage disease | , caused by heterogeneous mutations in the iduronate-2 | -sulfatase (IDS) gene, which result in accumulation of | heparan sulfate (HS) and dermatan sulfate within cells

关键词： Hunter disease | gene therapy | hematopoietic stem cell gene therapy | lysosomal | mucopolysaccharidosis | reversibility.

9. Effect of genistein and coenzyme Q10 in oxidative damage and mitochondrial membrane potential in an attenuated type II mucopolysaccharidosis cellular model NSTL国家科技图书文献中心

Camila Aguilar Delga... | Edina Poletto ... - 《Cell biochemistry and function》 - 2024,42(2) - e3932～e3932 - 共6页

摘要：Abstract Mucopolysaccharidosis* type II (MPS II* | heterozygous cellular model for MPS II and analyze parameters | cellular model by MPS II gene editing. An increase in the | milder MPS II phenotype, given that the accumulation of | cellular model for MPS II presented in the literature

关键词： cellular model | mitochondrial disfunction | mucopolysaccharidosis type II | oxidative stress

10. Mucopolysaccharidosis type II B complicated by optic disc swelling, pigmentary retinopathy and macular edema NSTL国家科技图书文献中心

Olivieri, Chiara | Ricardi, Federico ... - 《European journal of ophthalmology》 - 2024,34(5) - NP72～NP77 - 共6页

摘要： patient with mucopolysaccharidosis* (MPS) type II B* | . Methods: A 27-year-old man, diagnosed with MPS type II B | patient with MPS type II B. This report describes for | Purpose: To report clinical and imaging | features of optic nerve and retinal involvement in a

关键词： Retinal degenerations associated with systemic disease < RETINA | CME < RETINA | examination techniques < CORNEA / EXTERNAL DISEASE | GENETICS | genetic disease / congenital abnormalities < PEDIATRIC OPHTHALMOLOGY

摘要：Abstract Mucopolysaccharidosis II (MPS II | siblings with MPS II enrolled in clinical trials: a | Ability (DAS‐II GCA) scores; Bayley Scales of Infant and | Behavior Composite (VABS‐II ABC). Seven sets of siblings | of cognitive function: DAS‐II GCA and VABS‐II ABC