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Disease on EC 3.1.6.13 - iduronate-2-sulfatase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Anaphylaxis
IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome.
[Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)].
arylsulfatase (type i) deficiency
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency.
Contracture
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
Drug-Related Side Effects and Adverse Reactions
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).
Dysostoses
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.
Fabry Disease
Lysosomal storage diseases.
Fragile X Syndrome
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.
Gaucher Disease
Lysosomal storage diseases.
Genetic Diseases, Inborn
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice.
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Idursulfase for the treatment of mucopolysaccharidosis II.
Severe central airway stenosis and tracheomalacia in hunter syndrome.
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Genetic Diseases, X-Linked
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene.
Glycogen Storage Disease Type II
Lysosomal storage diseases.
Hearing Loss, Sensorineural
Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis.
Hypersensitivity
Idursulfase: a poor risk-benefit balance in type II mucopolysaccharidosis.
IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome.
iduronate-2-sulfatase deficiency
A new DNA marker tightly linked to the fragile X locus (FRAXA).
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
Cerebral infarction in Hunter syndrome.
Closed Meningo(encephalo)cele: A New Feature in Hunter Syndrome.
Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis.
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review.
Enrichment of human heterokaryons by Ficoll gradient for complementation analysis of iduronate sulfatase deficiency.
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation.
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer.
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?
Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS).
X-linked Hunter syndrome: the heterozygous phenotype in cell culture.
Lysosomal Storage Diseases
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
Ancestral lysosomal enzymes with increased activity harbor therapeutic potential for treatment of Hunter syndrome.
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice.
Clinical assessment of upper airway and its complications in Hunter Syndrome.
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).
Comparative study of idursulfase beta and idursulfase in vitro and in vivo.
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
Efficient engraftment of genetically modified cells is necessary to ameliorate central nervous system involvement of murine model of mucopolysaccharidosis type II by hematopoietic stem cell targeted gene therapy.
Genetics and Gene Therapy in Hunter Disease.
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.
IDS transfer from overexpressing cells to IDS-deficient cells.
Magnetic resonance imaging findings in Hunter syndrome.
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II.
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.
Production and characterization of a human lysosomal recombinant iduronate-2-sulfatase produced in Pichia pastoris.
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
Safety Evaluation of Chronic Intrathecal Administration of Idursulfase-IT in Cynomolgus Monkeys.
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome).
The management of children with Hunter syndrome - a case study.
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.
Metabolic Diseases
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).
Mucolipidoses
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Mucopolysaccharidoses
A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates.
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.
A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice.
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry.
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.
Acute airway obstruction in Hunter syndrome.
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
Bone marrow transplantation in a Hunter patient with P266H mutation.
Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice.
Brain-penetrating IgG-iduronate 2-sulfatase fusion protein for the mouse.
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
Cerebral infarction in Hunter syndrome.
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II.
Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report.
Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II.
Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy.
Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II.
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients.
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).
Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis.
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Cost-Effectiveness of the Quantification of Enzymatic Activity in Leukocytes in Comparison to Its Nonrealization for a Rare Disease in Latin America: The Case of Mucopolysaccharidosis Type II in Colombia.
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice.
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.
Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS.
DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy.
Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing.
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis.
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review.
Early and late brain resonance findings of two siblings with Hunter syndrome.
Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II.
Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans.
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Efficient engraftment of genetically modified cells is necessary to ameliorate central nervous system involvement of murine model of mucopolysaccharidosis type II by hematopoietic stem cell targeted gene therapy.
Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II.
Enzyme replacement therapy for mucopolysaccharidosis II from 3?months of age: a 3-year follow-up.
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report.
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II.
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.
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice.
Expanding the phenotype of mucopolysaccharidosis type II retinopathy.
Expression in CHO cells and pharmacokinetics and brain uptake in the Rhesus monkey of an IgG-iduronate-2-sulfatase fusion protein.
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation.
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
Gene therapy of Hunter syndrome: Evaluation of the efficiency of muscle electro gene transfer for the production and release of recombinant iduronate-2-sulfatase (IDS).
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene.
Genetic analysis of 17 children with hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Genetics and Gene Therapy in Hunter Disease.
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.
Hematopoietic stem cell gene therapy corrects the neuropathic phenotype in murine model of mucopolysaccharidosis type II.
High-Throughput Liquid Chromatography-Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II.
Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively.
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.
Identification of 11 novel mutations in 49 Korean patients with Mucopolysaccharidosis Type II.
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).
Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.
IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice.
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.
IDS transfer from overexpressing cells to IDS-deficient cells.
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
Idursulfase: a poor risk-benefit balance in type II mucopolysaccharidosis.
Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome).
IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome.
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
Improved Reagents for Newborn Screening of Mucopolysaccharidosis-I, II and VI by Tandem Mass Spectrometry.
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS).
Insulin receptor antibody-iduronate 2-sulfatase fusion protein: Pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys.
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
Japan Elaprase((R)) Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase.
Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach.
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene.
Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease.
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Mucopolysaccharidosis II (MPS II) in a Free-Living Kaka (Nestor meridionalis) in New Zealand.
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts.
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mucopolysaccharidosis Type II (Hunter Syndrome): Clinical Picture and Treatment.
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.
Mucopolysaccharidosis Type II and the G374sp Mutation.
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Mucopolysaccharidosis type II in females: case report and review of literature.
Mucopolysaccharidosis type II with inguinal hernia.
Mucopolysaccharidosis type II: an update on mutation spectrum.
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Mucopolysaccharidosis type II: skeletal-muscle system involvement.
Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved.
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
Natural progression of neurological disease in mucopolysaccharidosis type II.
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II.
Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II.
Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
Osteoarthropathy in mucopolysaccharidosis type II.
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.
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy.
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice by Central Nervous System-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer.
Production of therapeutic iduronate-2-sulfatase enzyme with a novel single-stranded RNA virus vector.
Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme.
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts.
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).
Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy.
Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome.
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan.
Sequence of the human iduronate 2-sulfatase (IDS) gene.
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Successful desensitization to idursulfase in a patient with type II mucopolysaccharidosis (Hunter syndrome).
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals.
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II.
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease).
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase.
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia.
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro.
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II.
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis type?].
[Clinical practice guideline for the management of Hunter syndrome.]
[Clinical study of enzyme replacement therapy with idursulfase.]
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]
[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II]
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]
[Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis].
[Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry.]
[In Process Citation].
[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II]
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]
[Mutation analysis in Hunter patients]
[Necrotizing pneumonia associated with influenza A H1N1 infection in a child with mucopolysaccharidosis type II: Case report].
[Prenatal diagnosis of mucopolysaccharidosis type II].
[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese]
Mucopolysaccharidosis I
Lysosomal storage diseases.
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
Mucopolysaccharidosis II
"Supercharged Cells" for delivery of recombinant human iduronate-2-sulfatase.
A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.
A click-flipped enzyme substrate boosts the performance of the diagnostic screening for Hunter syndrome.
A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.
A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice.
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy.
A new DNA marker tightly linked to the fragile X locus (FRAXA).
A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).
A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry.
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.
Acute airway obstruction in Hunter syndrome.
Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study.
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).
Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation.
Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration.
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
Bone marrow transplantation in a Hunter patient with P266H mutation.
Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice.
Brazilian reference values for MPS II screening in dried blood spots--a fluorimetric assay.
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
Cerebral infarction in Hunter syndrome.
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II.
Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report.
Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II.
Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy.
Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II.
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients.
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice.
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
Clinical assessment of upper airway and its complications in Hunter Syndrome.
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.
CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder.
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).
Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis.
Comparative study of idursulfase beta and idursulfase in vitro and in vivo.
Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome.
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: A case report.
CORRIGENDUM: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice.
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.
Detection of hunter heterozygotes by enzymatic analysis of hair roots.
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
Development of the multi-attribute Adolescent Health Utility Measure (AHUM).
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls.
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS.
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy.
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
Donor bone marrow from a sibling with inborn error of metabolism for treatment of acute leukaemia - clinical and biochemical consequences in the non-affected recipient.
Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing.
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review.
Early and late brain resonance findings of two siblings with Hunter syndrome.
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome.
Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II.
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans.
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Efficient engraftment of genetically modified cells is necessary to ameliorate central nervous system involvement of murine model of mucopolysaccharidosis type II by hematopoietic stem cell targeted gene therapy.
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.
Enrichment of human heterokaryons by Ficoll gradient for complementation analysis of iduronate sulfatase deficiency.
Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II.
Enzyme replacement therapy for mucopolysaccharidosis II from 3?months of age: a 3-year follow-up.
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report.
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II.
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.
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice.
Expanding the phenotype of mucopolysaccharidosis type II retinopathy.
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation.
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS).
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
Gene therapy of Hunter syndrome: Evaluation of the efficiency of muscle electro gene transfer for the production and release of recombinant iduronate-2-sulfatase (IDS).
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene.
Genetic analysis of 17 children with hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Genetics and Gene Therapy in Hunter Disease.
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome).
Hematopoietic stem cell gene therapy corrects the neuropathic phenotype in murine model of mucopolysaccharidosis type II.
Heterogeneity of DNA and RNA in Hunter patients.
Heterozygote detection in Hunter syndrome.
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.
Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively.
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.
Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.
Hunter syndrome among Jews in Israel.
Hunter Syndrome Diagnosed by Otorhinolaryngologist.
Hunter syndrome follow-up after 1 year of enzyme-replacement therapy.
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage.
Hunter syndrome: prenatal diagnosis in maternal serum.
Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase.
Hunter Syndrome: Resolution of Extensive Typical Skin Lesions After 9?Months of Enzyme Replacement Therapy with Idursulfase.
Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes.
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
Identification of 11 novel mutations in 49 Korean patients with Mucopolysaccharidosis Type II.
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).
Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.
Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.
IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice.
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.
IDS transfer from overexpressing cells to IDS-deficient cells.
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state.
Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the hunter syndrome.
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil.
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial.
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene.
Idursulfase for the treatment of mucopolysaccharidosis II.
Idursulfase in Hunter syndrome treatment.
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.
Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome).
IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome.
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome).
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II.
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer.
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS).
Initial report from the Hunter Outcome Survey.
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
Japan Elaprase((R)) Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
Long-term enzyme replacement therapy in a severe case of mucopolysaccharidosis type II (Hunter syndrome).
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
Magnetic resonance imaging findings in Hunter syndrome.
Management of the behavioural manifestations of Hunter syndrome.
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase.
Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach.
Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
Molecular and phenotypic variation in patients with severe Hunter syndrome.
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease.
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Mucopolysaccharidosis II (MPS II) in a Free-Living Kaka (Nestor meridionalis) in New Zealand.
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts.
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mucopolysaccharidosis Type II (Hunter Syndrome): Clinical Picture and Treatment.
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.
Mucopolysaccharidosis Type II and the G374sp Mutation.
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Mucopolysaccharidosis type II in females: case report and review of literature.
Mucopolysaccharidosis type II with inguinal hernia.
Mucopolysaccharidosis type II, Hunter's syndrome.
Mucopolysaccharidosis type II: an update on mutation spectrum.
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Mucopolysaccharidosis type II: skeletal-muscle system involvement.
Multidisciplinary management of Hunter syndrome.
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved.
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
Natural progression of neurological disease in mucopolysaccharidosis type II.
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II.
Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome).
Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II.
Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).
Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene.
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
Osteoarthropathy in mucopolysaccharidosis type II.
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.
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy.
Parental experience of enzyme replacement therapy for Hunter syndrome.
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.
Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration.
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).
Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase.
Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II Patient.
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II.
Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II).
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).
Prevalence and characterization of cardiac involvement in hunter syndrome.
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice by Central Nervous System-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer.
Production and characterization of a human lysosomal recombinant iduronate-2-sulfatase produced in Pichia pastoris.
Production of therapeutic iduronate-2-sulfatase enzyme with a novel single-stranded RNA virus vector.
Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme.
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts.
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).
Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy.
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases.
Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome.
Retroviral-mediated transfer of the iduronate-2-sulfatase gene into lymphocytes for treatment of mild Hunter syndrome (mucopolysaccharidosis type II).
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.
Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan.
Safety Evaluation of Chronic Intrathecal Administration of Idursulfase-IT in Cynomolgus Monkeys.
Sequence of the human iduronate 2-sulfatase (IDS) gene.
Severe central airway stenosis and tracheomalacia in hunter syndrome.
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
Short synthetic sequence for 2-sulfation of alpha-L-iduronate glycosides.
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals.
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome).
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II.
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology.
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?
The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.
The management of children with Hunter syndrome - a case study.
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5years and older treated with intravenous idursulfase.
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease).
Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis.
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase.
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.
Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques.
Transabdominal preperitoneal repair for an adolescent patient with Hunter syndrome: a case report.
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro.
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II.
Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS).
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
X-linked Hunter syndrome: the heterozygous phenotype in cell culture.
[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome]
[Clinical practice guideline for the management of Hunter syndrome.]
[Clinical study of enzyme replacement therapy with idursulfase.]
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]
[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II]
[Detection of a new mutation (T1140C)in a Chinese Guangdong patient with hunter syndrome]
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]
[Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis].
[Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry.]
[Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)].
[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II]
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]
[Mutation analysis in Hunter patients]
[Necrotizing pneumonia associated with influenza A H1N1 infection in a child with mucopolysaccharidosis type II: Case report].
[Prenatal diagnosis of mucopolysaccharidosis type II].
[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese]
Mucopolysaccharidosis IV
Lysosomal storage diseases.
Mucopolysaccharidosis VI
Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively.
Multiple Sulfatase Deficiency Disease
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency.
Neoplasms
Identification of candidate biomarkers in converting and non-converting clinically isolated syndrome by proteomics analysis of cerebrospinal fluid.
Iduronate-2-Sulfatase-Regulated Dermatan Sulfate Levels Potentiate the Invasion of Breast Cancer Epithelia through Collagen Matrix.
Neurologic Manifestations
Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice.
Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration.
Pancytopenia
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Purpura, Thrombocytopenic
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Sleep Apnea, Obstructive
Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunter.