Research graph
References from Hunter syndrome (mucopolysaccharidosis type II): Molecular mechanisms, CNS biomarkers, and emerging therapeutic strategies. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
2022 · External reference
Correlation between CSF and blood neurofilament light chain protein: a systematic review and meta-analysis
10.1136/bmjno-2021-000143 · 2021 · External reference
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line
10.1002/pd.2786 · 2011 · External reference
Carrier detection in Hunter syndrome
10.1002/ajmg.1320160111 · 1983 · External reference
Iduronate-2-sulfatase transport vehicle rescues behavioral and skeletal phenotypes in a mouse model of Hunter syndrome
10.1172/jci.insight.145445 · 2021 · External reference
A link between baseline neurofilament light chain and primary substrate accumulation in cerebrospinal fluid, and clinical outcomes in patients with MPS II from a phase 2/3 clinical trial and extension study of intrathecal idursulfase
10.1016/j.ymgme.2025.109055 · 2025 · External reference
Aversive and non-aversive memory impairment in the mucopolysaccharidosis II mouse model
10.1007/s11011-017-0110-5 · 2018 · External reference
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice
10.1007/s11011-020-00592-5 · 2020 · External reference
A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes
10.1038/s41598-023-37138-5 · 2023 · External reference
Optical genome mapping as a potential routine clinical diagnostic method
10.3390/genes15030342 · 2024 · External reference
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: a 7 years follow-up
2017 · External reference
Respiratory and sleep disorders in mucopolysaccharidosis
10.1007/s10545-012-9555-1 · 2013 · External reference
Characterization of fluid biomarkers reveals lysosome dysfunction and neurodegeneration in neuronopathic MPS II patients
10.3390/ijms21155188 · 2020 · External reference
Hematopoietic stem cell gene therapy for storage disease: current and new indications
10.1016/j.ymthe.2017.03.025 · 2017 · External reference
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome
10.1159/000472302 · 1995 · External reference
Unresolved reference
1995 · External reference
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
10.1007/s10545-011-9359-8 · 2011 · External reference
Unresolved reference
1998 · External reference
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
10.3390/ijns6030073 · 2020 · External reference
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls
10.1007/s00431-012-1703-y · 2012 · External reference
Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3beta inhibition for therapeutic potential
10.1038/s41419-024-06692-9 · 2024 · External reference
Updated confirmatory diagnosis for Mucopolysaccharidoses in Taiwanese infants and the application of gene variants
10.3390/ijms23179979 · 2022 · External reference
Nationwide newborn screening for mucopolysaccharidoses in Taiwan: impact, early diagnosis, and clinical advances over the past decade
10.1016/j.gim.2026.102596 · 2026 · External reference
Liver directed adeno-associated viral vectors to treat metabolic disease
10.1002/jimd.12637 · 2024 · External reference
Biomarkers for the mucopolysaccharidoses: discovery and clinical utility
10.1016/j.ymgme.2012.05.003 · 2012 · External reference
Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment
10.3390/ijms21041258 · 2020 · External reference
Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter syndrome)
10.1007/s10545-010-9197-0 · 2010 · External reference
Gene therapy for neuronopathic Mucopolysaccharidoses: state of the art
10.3390/ijms22179200 · 2021 · External reference
Unresolved reference
2012 · External reference
Unresolved reference
2024 · External reference
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase
10.1038/ncomms15786 · 2017 · External reference
Extracellular vesicles for the delivery of gene therapy
10.1038/s44222-025-00277-7 · 2025 · External reference
The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome
2020 · External reference
Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II
10.3174/ajnr.a2032 · 2010 · External reference
Determination of pediatric and adult reference intervals for neurofilament light chain (NfL) in blood and a comparison to other recent studies
10.21037/jlpm-24-33 · 2024 · External reference
Unresolved reference
2011 · External reference
Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts
10.1126/science.162.3853.570 · 1968 · External reference
Mucopolysaccharidosis type II–genotype/phenotype aspects
10.1111/j.1651-2227.2002.tb03116.x · 2002 · External reference
Mucopolysaccharidosis type II: an update on mutation spectrum
10.1111/j.1651-2227.2007.00213.x · 2007 · External reference
Biomarkers in patients with mucopolysaccharidosis type II and IV
2019 · External reference
Contribution of vesicle trafficking dysregulation to the pathomechanism of mucopolysaccharidosis
10.1016/j.bbrc.2023.04.093 · 2023 · External reference
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)
10.1007/s10545-007-0641-8 · 2007 · External reference
AAV engineering for improving tropism to the central nervous system
2023 · External reference
CAMPSIITE® Phase I/II/III: Interim clinical update of clemidsogene lanparvovec (RGX-121), an investigational gene therapy for treatment of neuronopathic mucopolysaccharidosis type II (MPS II)
2025 · External reference
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients
2017 · External reference
Enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis II: an integrated analysis of preclinical and clinical data
10.3390/ijms222010938 · 2021 · External reference
Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis type II: a position statement
10.1186/s13023-024-03463-9 · 2024 · External reference
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of mucopolysaccharidosis type II
10.1371/journal.pone.0172435 · 2017 · External reference
Timing is everything: clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
2022 · External reference
Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years
10.1016/j.jpeds.2008.11.041 · 2009 · External reference
Unresolved reference
2013 · External reference
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
10.1016/j.ymthe.2022.10.010 · 2022 · External reference
Animal models for mucopolysaccharidoses and their clinical relevance
10.1111/j.1651-2227.2002.tb03117.x · 2002 · External reference
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
10.1016/j.ymgme.2023.107632 · 2023 · External reference
Delivery of an adeno-associated virus vector into cerebrospinal fluid attenuates central nervous system disease in mucopolysaccharidosis type II mice
10.1089/hum.2016.101 · 2016 · External reference
Adeno-associated virus-based gene therapy for CNS diseases
10.1089/hum.2016.087 · 2016 · External reference
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
10.1016/j.scr.2019.101451 · 2019 · External reference
Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening
10.1001/jamapediatrics.2018.0263 · 2018 · External reference
Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II
10.1016/j.ymgme.2017.12.428 · 2018 · External reference
Generation of a novel capsid engineering platform enhances CNS and muscle tropism of AAV vectors while reducing tropism to the liver
2025 · External reference
Advances in immune tolerance induction in enzyme replacement therapy
10.1007/s40272-024-00627-9 · 2024 · External reference
Exosome for mRNA delivery: strategies and therapeutic applications
10.1186/s12951-024-02634-x · 2024 · External reference
Oxidative and nitrative stress and pro-inflammatory cytokines in mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation
10.1016/j.bbadis.2016.05.021 · 2016 · External reference
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS)
10.1007/s10545-009-1119-7 · 2009 · External reference
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
10.1002/ajmg.c.31915 · 2021 · External reference
Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy
10.1007/s10059-010-0083-2 · 2010 · External reference
Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy
10.1002/jimd.12808 · 2025 · External reference
Neurofilaments as biomarkers in neurological disorders - towards clinical application
10.1038/s41582-024-00955-x · 2024 · External reference
Unresolved reference
2022 · External reference
Lysosome-mitochondrial crosstalk in cellular stress and disease
2025 · External reference
Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells
10.1016/j.yexcr.2019.04.021 · 2019 · External reference
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
10.1016/j.ymgme.2016.12.010 · 2017 · External reference
Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis II
10.1016/j.bbmt.2017.06.020 · 2017 · External reference
Diagnosis of Mucopolysaccharidoses
2020 · External reference
Unresolved reference
2026 · External reference
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
10.1371/journal.pone.0138622 · 2015 · External reference
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: an analysis from the Hunter Outcome Survey
2023 · External reference
Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses
10.1038/nchembio.766 · 2012 · External reference
Mucopolysaccharidoses: cellular consequences of glycosaminoglycans accumulation and potential targets
10.3390/ijms24010477 · 2022 · External reference
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
10.3345/kjp.2012.55.3.88 · 2012 · External reference
Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene
10.1016/j.scr.2024.103639 · 2025 · External reference
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
10.1186/s13023-021-01743-2 · 2021 · External reference
Unresolved reference
2022 · External reference
AAV-based in vivo gene therapy for neurological disorders
10.1038/s41573-023-00766-7 · 2023 · External reference
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey
2010 · External reference
Unresolved reference
2014 · External reference
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method
10.1002/humu.20165 · 2005 · External reference
Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc
10.1038/s41419-024-06661-2 · 2024 · External reference
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
10.1542/peds.2007-1350 · 2008 · External reference
TFEB and TFE3: the art of multi-tasking under stress conditions
10.1080/21541264.2016.1264353 · 2017 · External reference
Self-complementary AAV vectors; advances and applications
10.1038/mt.2008.171 · 2008 · External reference
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey
10.1097/gim.0b013e3181f6e74d · 2010 · External reference
Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice
10.1016/j.ymthe.2021.01.027 · 2021 · External reference
Cell cycle is disturbed in mucopolysaccharidosis type II fibroblasts, and can be improved by genistein
10.1016/j.gene.2016.03.029 · 2016 · External reference
Hunter’s disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene
10.1136/adc.58.11.911 · 1983 · External reference
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome)
10.1172/jci.insight.86696 · 2016 · External reference
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
10.1097/01.gim.0000232477.37660.fb · 2006 · External reference
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
10.1097/gim.0b013e3181fea459 · 2011 · External reference
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II
10.1038/gim.2015.36 · 2016 · External reference
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry
10.1186/s13023-017-0635-z · 2017 · External reference
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)
10.1186/s13023-021-02052-4 · 2021 · External reference
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: results from a phase 2/3 randomized study
10.1016/j.ymgme.2022.07.017 · 2022 · External reference
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study
10.1186/s13023-023-02805-3 · 2023 · External reference
Community consensus for Heparan sulfate as a biomarker to support accelerated approval in neuronopathic mucopolysaccharidoses
10.1016/j.ymgme.2024.108535 · 2024 · External reference
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey
10.1016/j.ymgme.2025.109284 · 2025 · External reference
An intravenous brain-penetrant enzyme therapy for mucopolysaccharidosis II
10.1056/nejmoa2508681 · 2026 · External reference
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya
10.1186/s13023-025-03881-3 · 2025 · External reference
The application of long-read sequencing in clinical settings
10.1186/s40246-023-00522-3 · 2023 · External reference
A phase 2/3 trial of Pabinafusp alfa, IDS fused with anti-human transferrin receptor antibody, targeting neurodegeneration in MPS-II
10.1016/j.ymthe.2020.09.039 · 2021 · External reference
Unresolved reference
2011 · External reference
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)
10.1186/s13023-015-0265-2 · 2015 · External reference
The role of innate immunity in mucopolysaccharide diseases
10.1111/jnc.14632 · 2019 · External reference
Evading the AAV immune response in mucopolysaccharidoses
10.3390/ijms21103433 · 2020 · External reference
Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells
10.1016/j.ejcb.2022.151232 · 2022 · External reference
Unresolved reference
2013 · External reference
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses
10.1038/sj.ejhg.5201623 · 2006 · External reference
Crosstalk between lysosomes and mitochondria in Parkinson’s disease
10.3389/fcell.2017.00110 · 2017 · External reference
Unresolved reference
2022 · External reference
Unresolved reference
2023 · External reference
Unresolved reference
2026 · External reference
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
10.1007/s10545-017-0108-5 · 2018 · External reference
Brain RNA-seq profiling of the mucopolysaccharidosis type II mouse model
10.3390/ijms18051072 · 2017 · External reference
Unresolved reference
2023 · External reference
Unresolved reference
2025 · External reference
Mucopolysaccharidosis Type II
2025 · External reference
Mucopolysaccharidosis Type II
2026 · External reference
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
10.1186/1750-1172-6-72 · 2011 · External reference
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
10.1186/s12881-019-0807-x · 2019 · External reference
Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): contribution of genotype to cognitive developmental course
2020 · External reference
Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: final report of 5-year results from a Japanese open-label phase 1/2 study
10.1016/j.ymgme.2023.107709 · 2023 · External reference
Phenotypic correction of murine mucopolysaccharidosis type II by engraftment of ex vivo lentiviral vector-transduced hematopoietic stem and progenitor cells
10.1089/hum.2022.141 · 2022 · External reference
Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice
10.1016/j.omtm.2024.101201 · 2024 · External reference
Pebbling of skin: cutaneous marker of Hunter syndrome
10.4103/2229-5178.198772 · 2017 · External reference
Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS
2020 · External reference
Strategies to improve safety profile of AAV vectors
10.3389/fmmed.2022.1054069 · 2022 · External reference
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan
10.1016/j.ymgme.2012.09.004 · 2012 · External reference
Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS
10.1016/j.ymgme.2018.07.013 · 2018 · External reference
Unresolved reference
2018 · External reference
Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing
10.1136/jmg.35.8.646 · 1998 · External reference
Cutaneous manifestations of mucopolysaccharidoses
10.1111/pde.12971 · 2016 · External reference
Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan
10.1080/14740338.2020.1751120 · 2020 · External reference
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II
10.3174/ajnr.a0510 · 2007 · External reference
Brain pathology in mucopolysaccharidoses (MPS) patients with neurological forms
10.3390/jcm9020396 · 2020 · External reference
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype
10.1111/dmcn.13467 · 2017 · External reference
Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
10.1002/jimd.12342 · 2021 · External reference
Anaesthesia and airway management in mucopolysaccharidosis
10.1007/s10545-012-9563-1 · 2013 · External reference
Adeno-associated virus as a delivery vector for gene therapy of human diseases
10.1038/s41392-024-01780-w · 2024 · External reference
The future of newborn screening for lysosomal disorders
10.1016/j.neulet.2021.136080 · 2021 · External reference
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future
10.2147/dddt.s139601 · 2017 · External reference
Relationship of sleep to pulmonary function in mucopolysaccharidosis II
10.1016/j.jpeds.2012.11.039 · 2013 · External reference
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
10.1007/s00431-007-0635-4 · 2008 · External reference
Transcription factor EB agonists from natural products for treating human diseases with impaired autophagy-lysosome pathway
10.1186/s13020-020-00402-1 · 2020 · External reference
Allogeneic hematopoietic stem cell transplantation modulates neurodevelopmental trajectories in mucopolysaccharidosis: a longitudinal study of subtype-specific outcomes and age-dependent efficacy
10.1186/s13023-025-04025-3 · 2025 · External reference
The natural history of the severe form of Hunter’s syndrome: a study based on 52 cases
10.1111/j.1469-8749.1983.tb13794.x · 1983 · External reference
Mild form of Hunter’s syndrome: clinical delineation based on 31 cases
10.1136/adc.57.11.828 · 1982 · External reference
Brain and spinal MR imaging findings in mucopolysaccharidoses: a review
10.3174/ajnr.a2832 · 2013 · External reference
Targeting neurological aspects of mucopolysaccharidosis type II: enzyme replacement therapy and beyond
10.1007/s40259-024-00675-0 · 2024 · External reference
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants
10.1186/s40246-024-00701-w · 2024 · External reference
Unresolved reference
2011 · External reference
Unresolved reference
2019 · External reference
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life
10.1186/s13052-025-01919-7 · 2025 · External reference
