Disease on EC 3.1.6.13 - iduronate-2-sulfatase
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Anaphylaxis
IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome.
Anaphylaxis
[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.
arylsulfatase (type i) deficiency
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.
Fragile X Syndrome
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.
Genetic Diseases, Inborn
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice.
Genetic Diseases, Inborn
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Genetic Diseases, Inborn
Severe central airway stenosis and tracheomalacia in hunter syndrome.
Genetic Diseases, Inborn
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.
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.
Hypersensitivity
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).
iduronate-2-sulfatase deficiency
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
iduronate-2-sulfatase deficiency
Closed Meningo(encephalo)cele: A New Feature in Hunter Syndrome.
iduronate-2-sulfatase deficiency
Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis.
iduronate-2-sulfatase deficiency
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review.
iduronate-2-sulfatase deficiency
Enrichment of human heterokaryons by Ficoll gradient for complementation analysis of iduronate sulfatase deficiency.
iduronate-2-sulfatase deficiency
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation.
iduronate-2-sulfatase deficiency
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.
iduronate-2-sulfatase deficiency
In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer.
iduronate-2-sulfatase deficiency
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?
iduronate-2-sulfatase deficiency
Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS).
iduronate-2-sulfatase deficiency
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.
Lysosomal Storage Diseases
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.
Lysosomal Storage Diseases
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
Lysosomal Storage Diseases
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
Lysosomal Storage Diseases
Ancestral lysosomal enzymes with increased activity harbor therapeutic potential for treatment of Hunter syndrome.
Lysosomal Storage Diseases
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
Lysosomal Storage Diseases
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
Lysosomal Storage Diseases
Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice.
Lysosomal Storage Diseases
Clinical assessment of upper airway and its complications in Hunter Syndrome.
Lysosomal Storage Diseases
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).
Lysosomal Storage Diseases
Comparative study of idursulfase beta and idursulfase in vitro and in vivo.
Lysosomal Storage Diseases
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.
Lysosomal Storage Diseases
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
Lysosomal Storage Diseases
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.
Lysosomal Storage Diseases
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.
Lysosomal Storage Diseases
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
Lysosomal Storage Diseases
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
Lysosomal Storage Diseases
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Lysosomal Storage Diseases
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Lysosomal Storage Diseases
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
Lysosomal Storage Diseases
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II.
Lysosomal Storage Diseases
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.
Lysosomal Storage Diseases
Production and characterization of a human lysosomal recombinant iduronate-2-sulfatase produced in Pichia pastoris.
Lysosomal Storage Diseases
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
Lysosomal Storage Diseases
Safety Evaluation of Chronic Intrathecal Administration of Idursulfase-IT in Cynomolgus Monkeys.
Lysosomal Storage Diseases
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Lysosomal Storage Diseases
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome).
Lysosomal Storage Diseases
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.
Mucopolysaccharidoses
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.
Mucopolysaccharidoses
A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice.
Mucopolysaccharidoses
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
Mucopolysaccharidoses
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
Mucopolysaccharidoses
A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.
Mucopolysaccharidoses
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
Mucopolysaccharidoses
Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice.
Mucopolysaccharidoses
Brain-penetrating IgG-iduronate 2-sulfatase fusion protein for the mouse.
Mucopolysaccharidoses
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
Mucopolysaccharidoses
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
Mucopolysaccharidoses
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
Mucopolysaccharidoses
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II.
Mucopolysaccharidoses
Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report.
Mucopolysaccharidoses
Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II.
Mucopolysaccharidoses
Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients.
Mucopolysaccharidoses
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
Mucopolysaccharidoses
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
Mucopolysaccharidoses
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.
Mucopolysaccharidoses
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
Mucopolysaccharidoses
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.
Mucopolysaccharidoses
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidoses
Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis.
Mucopolysaccharidoses
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Mucopolysaccharidoses
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice.
Mucopolysaccharidoses
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.
Mucopolysaccharidoses
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.
Mucopolysaccharidoses
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
Mucopolysaccharidoses
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.
Mucopolysaccharidoses
Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS.
Mucopolysaccharidoses
DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy.
Mucopolysaccharidoses
Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing.
Mucopolysaccharidoses
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis.
Mucopolysaccharidoses
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review.
Mucopolysaccharidoses
Early and late brain resonance findings of two siblings with Hunter syndrome.
Mucopolysaccharidoses
Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.
Mucopolysaccharidoses
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.
Mucopolysaccharidoses
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.
Mucopolysaccharidoses
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II.
Mucopolysaccharidoses
Enzyme replacement therapy for mucopolysaccharidosis II from 3?months of age: a 3-year follow-up.
Mucopolysaccharidoses
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report.
Mucopolysaccharidoses
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidoses
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice.
Mucopolysaccharidoses
Expanding the phenotype of mucopolysaccharidosis type II retinopathy.
Mucopolysaccharidoses
Expression in CHO cells and pharmacokinetics and brain uptake in the Rhesus monkey of an IgG-iduronate-2-sulfatase fusion protein.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation.
Mucopolysaccharidoses
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
Mucopolysaccharidoses
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).
Mucopolysaccharidoses
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
Mucopolysaccharidoses
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene.
Mucopolysaccharidoses
Genetic analysis of 17 children with hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Mucopolysaccharidoses
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Mucopolysaccharidoses
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Mucopolysaccharidoses
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Mucopolysaccharidoses
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Mucopolysaccharidoses
Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.
Mucopolysaccharidoses
Hematopoietic stem cell gene therapy corrects the neuropathic phenotype in murine model of mucopolysaccharidosis type II.
Mucopolysaccharidoses
High-Throughput Liquid Chromatography-Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II.
Mucopolysaccharidoses
Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively.
Mucopolysaccharidoses
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.
Mucopolysaccharidoses
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.
Mucopolysaccharidoses
Identification of 11 novel mutations in 49 Korean patients with Mucopolysaccharidosis Type II.
Mucopolysaccharidoses
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidoses
Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Mucopolysaccharidoses
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.
Mucopolysaccharidoses
IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice.
Mucopolysaccharidoses
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.
Mucopolysaccharidoses
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidoses
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
Mucopolysaccharidoses
Idursulfase: a poor risk-benefit balance in type II mucopolysaccharidosis.
Mucopolysaccharidoses
Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome).
Mucopolysaccharidoses
IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome.
Mucopolysaccharidoses
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidoses
Improved Reagents for Newborn Screening of Mucopolysaccharidosis-I, II and VI by Tandem Mass Spectrometry.
Mucopolysaccharidoses
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).
Mucopolysaccharidoses
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
Mucopolysaccharidoses
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).
Mucopolysaccharidoses
Insulin receptor antibody-iduronate 2-sulfatase fusion protein: Pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys.
Mucopolysaccharidoses
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
Mucopolysaccharidoses
Japan Elaprase((R)) Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).
Mucopolysaccharidoses
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
Mucopolysaccharidoses
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase.
Mucopolysaccharidoses
Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach.
Mucopolysaccharidoses
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene.
Mucopolysaccharidoses
Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
Mucopolysaccharidoses
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Mucopolysaccharidoses
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Mucopolysaccharidoses
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidoses
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Mucopolysaccharidoses
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Mucopolysaccharidoses
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease.
Mucopolysaccharidoses
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
Mucopolysaccharidoses
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
Mucopolysaccharidoses
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Mucopolysaccharidoses
Mucopolysaccharidosis II (MPS II) in a Free-Living Kaka (Nestor meridionalis) in New Zealand.
Mucopolysaccharidoses
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
Mucopolysaccharidoses
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.
Mucopolysaccharidoses
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Mucopolysaccharidoses
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Mucopolysaccharidoses
Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts.
Mucopolysaccharidoses
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mucopolysaccharidoses
Mucopolysaccharidosis Type II (Hunter Syndrome): Clinical Picture and Treatment.
Mucopolysaccharidoses
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
Mucopolysaccharidoses
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Mucopolysaccharidoses
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Mucopolysaccharidoses
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Mucopolysaccharidoses
Mucopolysaccharidosis type II in females: case report and review of literature.
Mucopolysaccharidoses
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Mucopolysaccharidoses
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Mucopolysaccharidoses
Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved.
Mucopolysaccharidoses
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Mucopolysaccharidoses
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidoses
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
Mucopolysaccharidoses
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidoses
Natural progression of neurological disease in mucopolysaccharidosis type II.
Mucopolysaccharidoses
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
Mucopolysaccharidoses
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).
Mucopolysaccharidoses
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy.
Mucopolysaccharidoses
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.
Mucopolysaccharidoses
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
Mucopolysaccharidoses
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).
Mucopolysaccharidoses
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
Mucopolysaccharidoses
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice by Central Nervous System-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer.
Mucopolysaccharidoses
Production of therapeutic iduronate-2-sulfatase enzyme with a novel single-stranded RNA virus vector.
Mucopolysaccharidoses
Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme.
Mucopolysaccharidoses
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts.
Mucopolysaccharidoses
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).
Mucopolysaccharidoses
Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy.
Mucopolysaccharidoses
Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome.
Mucopolysaccharidoses
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
Mucopolysaccharidoses
Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan.
Mucopolysaccharidoses
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
Mucopolysaccharidoses
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.
Mucopolysaccharidoses
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Mucopolysaccharidoses
Successful desensitization to idursulfase in a patient with type II mucopolysaccharidosis (Hunter syndrome).
Mucopolysaccharidoses
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
Mucopolysaccharidoses
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Mucopolysaccharidoses
The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals.
Mucopolysaccharidoses
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
Mucopolysaccharidoses
The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II.
Mucopolysaccharidoses
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
Mucopolysaccharidoses
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.
Mucopolysaccharidoses
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase.
Mucopolysaccharidoses
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
Mucopolysaccharidoses
Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia.
Mucopolysaccharidoses
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro.
Mucopolysaccharidoses
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II.
Mucopolysaccharidoses
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.
Mucopolysaccharidoses
[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis type?].
Mucopolysaccharidoses
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]
Mucopolysaccharidoses
[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II]
Mucopolysaccharidoses
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]
Mucopolysaccharidoses
[Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis].
Mucopolysaccharidoses
[Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry.]
Mucopolysaccharidoses
[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II]
Mucopolysaccharidoses
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]
Mucopolysaccharidoses
[Necrotizing pneumonia associated with influenza A H1N1 infection in a child with mucopolysaccharidosis type II: Case report].
Mucopolysaccharidoses
[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese]
Mucopolysaccharidosis I
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
Mucopolysaccharidosis II
"Supercharged Cells" for delivery of recombinant human iduronate-2-sulfatase.
Mucopolysaccharidosis II
A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
Mucopolysaccharidosis II
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
Mucopolysaccharidosis II
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.
Mucopolysaccharidosis II
A click-flipped enzyme substrate boosts the performance of the diagnostic screening for Hunter syndrome.
Mucopolysaccharidosis II
A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
Mucopolysaccharidosis II
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.
Mucopolysaccharidosis II
A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice.
Mucopolysaccharidosis II
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.
Mucopolysaccharidosis II
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
Mucopolysaccharidosis II
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
Mucopolysaccharidosis II
A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
Mucopolysaccharidosis II
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).
Mucopolysaccharidosis II
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.
Mucopolysaccharidosis II
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).
Mucopolysaccharidosis 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.
Mucopolysaccharidosis II
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.
Mucopolysaccharidosis II
Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.
Mucopolysaccharidosis II
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Mucopolysaccharidosis II
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).
Mucopolysaccharidosis II
Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation.
Mucopolysaccharidosis II
Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration.
Mucopolysaccharidosis II
Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.
Mucopolysaccharidosis II
Bone marrow transplantation in a Hunter patient with P266H mutation.
Mucopolysaccharidosis II
Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice.
Mucopolysaccharidosis II
Brazilian reference values for MPS II screening in dried blood spots--a fluorimetric assay.
Mucopolysaccharidosis II
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Mucopolysaccharidosis II
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
Mucopolysaccharidosis II
Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
Mucopolysaccharidosis II
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II.
Mucopolysaccharidosis II
Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report.
Mucopolysaccharidosis II
Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients.
Mucopolysaccharidosis II
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
Mucopolysaccharidosis II
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
Mucopolysaccharidosis II
Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice.
Mucopolysaccharidosis II
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
Mucopolysaccharidosis II
Clinical assessment of upper airway and its complications in Hunter Syndrome.
Mucopolysaccharidosis II
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.
Mucopolysaccharidosis II
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.
Mucopolysaccharidosis II
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
Mucopolysaccharidosis II
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.
Mucopolysaccharidosis II
CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder.
Mucopolysaccharidosis II
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis.
Mucopolysaccharidosis II
Comparative study of idursulfase beta and idursulfase in vitro and in vivo.
Mucopolysaccharidosis II
Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome.
Mucopolysaccharidosis II
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Mucopolysaccharidosis II
Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: A case report.
Mucopolysaccharidosis II
CORRIGENDUM: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
Mucopolysaccharidosis II
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.
Mucopolysaccharidosis II
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice.
Mucopolysaccharidosis II
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.
Mucopolysaccharidosis II
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Detection of hunter heterozygotes by enzymatic analysis of hair roots.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.
Mucopolysaccharidosis II
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
Mucopolysaccharidosis II
Development of the multi-attribute Adolescent Health Utility Measure (AHUM).
Mucopolysaccharidosis II
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls.
Mucopolysaccharidosis II
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Mucopolysaccharidosis 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.
Mucopolysaccharidosis II
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?
Mucopolysaccharidosis II
DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy.
Mucopolysaccharidosis II
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing.
Mucopolysaccharidosis II
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review.
Mucopolysaccharidosis II
Early and late brain resonance findings of two siblings with Hunter syndrome.
Mucopolysaccharidosis II
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome.
Mucopolysaccharidosis II
Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Mucopolysaccharidosis 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.
Mucopolysaccharidosis II
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.
Mucopolysaccharidosis II
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.
Mucopolysaccharidosis II
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.
Mucopolysaccharidosis II
Enrichment of human heterokaryons by Ficoll gradient for complementation analysis of iduronate sulfatase deficiency.
Mucopolysaccharidosis II
Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II.
Mucopolysaccharidosis II
Enzyme replacement therapy for mucopolysaccharidosis II from 3?months of age: a 3-year follow-up.
Mucopolysaccharidosis II
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report.
Mucopolysaccharidosis II
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II.
Mucopolysaccharidosis 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.
Mucopolysaccharidosis II
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
Mucopolysaccharidosis II
Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.
Mucopolysaccharidosis II
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice.
Mucopolysaccharidosis II
Expanding the phenotype of mucopolysaccharidosis type II retinopathy.
Mucopolysaccharidosis II
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation.
Mucopolysaccharidosis II
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).
Mucopolysaccharidosis II
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
Mucopolysaccharidosis II
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
Mucopolysaccharidosis II
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
Mucopolysaccharidosis II
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).
Mucopolysaccharidosis II
Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene.
Mucopolysaccharidosis II
Genetic analysis of 17 children with hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Mucopolysaccharidosis II
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Mucopolysaccharidosis II
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Mucopolysaccharidosis II
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Mucopolysaccharidosis II
Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.
Mucopolysaccharidosis II
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Mucopolysaccharidosis II
Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome).
Mucopolysaccharidosis II
Hematopoietic stem cell gene therapy corrects the neuropathic phenotype in murine model of mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.
Mucopolysaccharidosis II
Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively.
Mucopolysaccharidosis II
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.
Mucopolysaccharidosis II
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.
Mucopolysaccharidosis II
Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.
Mucopolysaccharidosis II
Hunter syndrome follow-up after 1 year of enzyme-replacement therapy.
Mucopolysaccharidosis II
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
Mucopolysaccharidosis II
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.
Mucopolysaccharidosis II
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
Mucopolysaccharidosis II
Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage.
Mucopolysaccharidosis II
Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase.
Mucopolysaccharidosis II
Hunter Syndrome: Resolution of Extensive Typical Skin Lesions After 9?Months of Enzyme Replacement Therapy with Idursulfase.
Mucopolysaccharidosis II
Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes.
Mucopolysaccharidosis II
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
Mucopolysaccharidosis II
Identification of 11 novel mutations in 49 Korean patients with Mucopolysaccharidosis Type II.
Mucopolysaccharidosis II
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Mucopolysaccharidosis II
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
Mucopolysaccharidosis II
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.
Mucopolysaccharidosis II
Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.
Mucopolysaccharidosis II
IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice.
Mucopolysaccharidosis II
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.
Mucopolysaccharidosis II
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Mucopolysaccharidosis II
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
Mucopolysaccharidosis II
Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state.
Mucopolysaccharidosis II
Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the hunter syndrome.
Mucopolysaccharidosis II
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil.
Mucopolysaccharidosis II
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial.
Mucopolysaccharidosis II
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
Mucopolysaccharidosis II
Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene.
Mucopolysaccharidosis II
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.
Mucopolysaccharidosis II
Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome).
Mucopolysaccharidosis II
IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome.
Mucopolysaccharidosis II
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome).
Mucopolysaccharidosis II
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).
Mucopolysaccharidosis II
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
Mucopolysaccharidosis II
In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
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).
Mucopolysaccharidosis II
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Mucopolysaccharidosis II
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
Mucopolysaccharidosis II
Japan Elaprase((R)) Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).
Mucopolysaccharidosis II
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
Mucopolysaccharidosis II
Long-term enzyme replacement therapy in a severe case of mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
Mucopolysaccharidosis II
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase.
Mucopolysaccharidosis II
Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach.
Mucopolysaccharidosis II
Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
Mucopolysaccharidosis II
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Mucopolysaccharidosis II
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Mucopolysaccharidosis II
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
Molecular and phenotypic variation in patients with severe Hunter syndrome.
Mucopolysaccharidosis II
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Mucopolysaccharidosis II
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Mucopolysaccharidosis II
Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease.
Mucopolysaccharidosis II
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
Mucopolysaccharidosis II
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Mucopolysaccharidosis II
Mucopolysaccharidosis II (MPS II) in a Free-Living Kaka (Nestor meridionalis) in New Zealand.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mucopolysaccharidosis II
Mucopolysaccharidosis Type II (Hunter Syndrome): Clinical Picture and Treatment.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
Mucopolysaccharidosis II
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 II
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II in females: case report and review of literature.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Mucopolysaccharidosis II
Mucopolysaccharidosis type II: skeletal-muscle system involvement.
Mucopolysaccharidosis II
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
Mucopolysaccharidosis II
Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved.
Mucopolysaccharidosis II
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Mucopolysaccharidosis II
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
Mucopolysaccharidosis II
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
Mucopolysaccharidosis II
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
Mucopolysaccharidosis II
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
Mucopolysaccharidosis II
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
Mucopolysaccharidosis II
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis II
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
Mucopolysaccharidosis II
Natural progression of neurological disease in mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome).
Mucopolysaccharidosis 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.
Mucopolysaccharidosis II
Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).
Mucopolysaccharidosis II
Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene.
Mucopolysaccharidosis II
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
Mucopolysaccharidosis 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.
Mucopolysaccharidosis II
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy.
Mucopolysaccharidosis II
Parental experience of enzyme replacement therapy for Hunter syndrome.
Mucopolysaccharidosis II
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration.
Mucopolysaccharidosis II
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).
Mucopolysaccharidosis II
Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase.
Mucopolysaccharidosis II
Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II Patient.
Mucopolysaccharidosis II
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II.
Mucopolysaccharidosis II
Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II).
Mucopolysaccharidosis II
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
Mucopolysaccharidosis II
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
Mucopolysaccharidosis II
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).
Mucopolysaccharidosis II
Prevalence and characterization of cardiac involvement in hunter syndrome.
Mucopolysaccharidosis II
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
Mucopolysaccharidosis II
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice by Central Nervous System-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer.
Mucopolysaccharidosis II
Production and characterization of a human lysosomal recombinant iduronate-2-sulfatase produced in Pichia pastoris.
Mucopolysaccharidosis II
Production of therapeutic iduronate-2-sulfatase enzyme with a novel single-stranded RNA virus vector.
Mucopolysaccharidosis II
Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.
Mucopolysaccharidosis II
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
Mucopolysaccharidosis II
Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme.
Mucopolysaccharidosis II
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts.
Mucopolysaccharidosis II
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).
Mucopolysaccharidosis II
Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy.
Mucopolysaccharidosis II
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases.
Mucopolysaccharidosis II
Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome.
Mucopolysaccharidosis II
Retroviral-mediated transfer of the iduronate-2-sulfatase gene into lymphocytes for treatment of mild Hunter syndrome (mucopolysaccharidosis type II).
Mucopolysaccharidosis II
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
Mucopolysaccharidosis II
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.
Mucopolysaccharidosis II
Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan.
Mucopolysaccharidosis II
Safety Evaluation of Chronic Intrathecal Administration of Idursulfase-IT in Cynomolgus Monkeys.
Mucopolysaccharidosis II
Severe central airway stenosis and tracheomalacia in hunter syndrome.
Mucopolysaccharidosis II
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
Mucopolysaccharidosis II
Short synthetic sequence for 2-sulfation of alpha-L-iduronate glycosides.
Mucopolysaccharidosis II
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Mucopolysaccharidosis II
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
Mucopolysaccharidosis II
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).
Mucopolysaccharidosis II
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
Mucopolysaccharidosis II
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Mucopolysaccharidosis II
The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals.
Mucopolysaccharidosis II
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome).
Mucopolysaccharidosis II
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
Mucopolysaccharidosis II
The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
Mucopolysaccharidosis II
The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II.
Mucopolysaccharidosis 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.
Mucopolysaccharidosis II
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
Mucopolysaccharidosis II
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.
Mucopolysaccharidosis II
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
Mucopolysaccharidosis II
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease).
Mucopolysaccharidosis II
Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis.
Mucopolysaccharidosis II
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.
Mucopolysaccharidosis II
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase.
Mucopolysaccharidosis II
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.
Mucopolysaccharidosis II
Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques.
Mucopolysaccharidosis II
Transabdominal preperitoneal repair for an adolescent patient with Hunter syndrome: a case report.
Mucopolysaccharidosis II
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
Mucopolysaccharidosis II
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro.
Mucopolysaccharidosis II
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II.
Mucopolysaccharidosis II
Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS).
Mucopolysaccharidosis 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.
Mucopolysaccharidosis II
X-linked Hunter syndrome: the heterozygous phenotype in cell culture.
Mucopolysaccharidosis II
[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome]
Mucopolysaccharidosis II
[Clinical practice guideline for the management of Hunter syndrome.]
Mucopolysaccharidosis II
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]
Mucopolysaccharidosis II
[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II]
Mucopolysaccharidosis II
[Detection of a new mutation (T1140C)in a Chinese Guangdong patient with hunter syndrome]
Mucopolysaccharidosis II
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]
Mucopolysaccharidosis II
[Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis].
Mucopolysaccharidosis II
[Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry.]
Mucopolysaccharidosis II
[Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)].
Mucopolysaccharidosis II
[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II]
Mucopolysaccharidosis II
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]
Mucopolysaccharidosis II
[Necrotizing pneumonia associated with influenza A H1N1 infection in a child with mucopolysaccharidosis type II: Case report].
Mucopolysaccharidosis II
[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese]
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.
Multiple Sulfatase Deficiency Disease
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.
Neoplasms
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.
Neurologic Manifestations
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.
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