Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

Novel Enzyme Replacement Therapies for Neuropathic Mucopolysaccharidoses

(2020) Yuji Sato et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders

(2020) Alessandra Zanetti et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future

(2019) Madeleine Taylor et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles

(2019) Laura Rigon et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

(2019) Junjie Hong et al.   Stem Cell Research

Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC–MS/MS

(2019) Iskren Menkovic et al.   Bioanalysis

Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments

(2019) Kazuki Sawamoto et al.   DRUGS

Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells

(2019) Julianna Kobolák et al.   EXPERIMENTAL CELL RESEARCH

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England

(2019) A. Broomfield et al.   MOLECULAR GENETICS AND METABOLISM

Gene-Based Approaches to Inherited Neurometabolic Diseases

(2019) Valentina Poletti et al.   HUMAN GENE THERAPY

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience

(2019) Barbara K. Burton et al.   JOURNAL OF PEDIATRICS

Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice

(2019) Mitsuyo Maeda et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses

(2019) Nina Patel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS

(2019) Iskren Menkovic et al.   Diagnostics

Proteomic approaches in the discovery of potential urinary biomarkers of mucopolysaccharidosis type II

(2019) Xiaozhou Yuan et al.   CLINICA CHIMICA ACTA

Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses

(2019) Juan Camilo Losada Díaz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

NGL viewer: web-based molecular graphics for large complexes

(2018) Alexander S Rose et al.   BIOINFORMATICS

Production and characterization of a human lysosomal recombinant iduronate-2-sulfatase produced in Pichia pastoris

(2018) Natalia Pimentel et al.   BIOTECHNOLOGY AND APPLIED BIOCHEMISTRY

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

(2018) Hélène FE Gleitz et al.   EMBO Molecular Medicine

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation

(2018) Maria Teresa Fiorenza et al.   HUMAN MOLECULAR GENETICS

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

(2018) Stefania Bellesso et al.   HUMAN MOLECULAR GENETICS

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

(2018) Young Bae Sohn et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Efficacy and safety of intrathecal idursulfase in pediatric patients with mucopolysaccharidosis type II and early cognitive impairment: Design and methods of a controlled, randomized, phase II/III multicenter study

(2018) Joseph Muenzer et al.   MOLECULAR GENETICS AND METABOLISM

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

(2018) Shaukat A. Khan et al.   MOLECULAR GENETICS AND METABOLISM

Gene therapy for Mucopolysaccharidoses

(2018) Kazuki Sawamoto et al.   MOLECULAR GENETICS AND METABOLISM

Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II

(2018) Hiroo Hoshina et al.   MOLECULAR GENETICS AND METABOLISM

A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II

(2018) Hiroyuki Sonoda et al.   MOLECULAR THERAPY

Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing

(2018) Kanut Laoharawee et al.   MOLECULAR THERAPY

A novel LC–MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II

(2018) Peng Pan et al.   Bioanalysis

Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects

(2018) Roberto Giugliani et al.   Expert Opinion on Orphan Drugs

Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II

(2018) Yosuke Osaki et al.   Cell Death & Disease

Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

(2018) Min-Ju Chan et al.   JOURNAL OF PEDIATRICS

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial

(2018) Torayuki Okuyama et al.   MOLECULAR THERAPY

Sangamo's landmark genome editing trial gets mixed reception

(2018) Cormac Sheridan   NATURE BIOTECHNOLOGY

FDA approves Galafold, a triumph for Amicus

(2018) Nuala Moran   NATURE BIOTECHNOLOGY

Hunter Syndrome

(2018) Rachel Joseph et al.   Advances in Neonatal Care

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

(2017) Linda A Bradley et al.   GENETICS IN MEDICINE

Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice by Central Nervous System–Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer

(2017) Kanut Laoharawee et al.   HUMAN GENE THERAPY

Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II

(2017) Roberto Costa et al.   HUMAN MOLECULAR GENETICS

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

(2017) Marika Salvalaio et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II

(2017) Jitka Rybová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Aversive and non-aversive memory impairment in the mucopolysaccharidosis II mouse model

(2017) Amanda Stapenhorst Azambuja et al.   METABOLIC BRAIN DISEASE

Epidemiology of mucopolysaccharidoses

(2017) Shaukat A. Khan et al.   MOLECULAR GENETICS AND METABOLISM

A long-term extension study evaluating intrathecal idursulfase-IT in children with Hunter syndrome and cognitive impairment

(2017) Joseph Muenzer et al.   MOLECULAR GENETICS AND METABOLISM

Glycosaminoglycans detection methods: Applications of mass spectrometry

(2017) Francyne Kubaski et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic Stem Cell Gene Therapy for Storage Disease: Current and New Indications

(2017) Alessandra Biffi   MOLECULAR THERAPY

Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II

(2017) Hélène F. E. Gleitz et al.   PLoS One

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase

(2017) Mykhaylo Demydchuk et al.   Nature Communications

Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

(2017) Molly Stapleton et al.   Expert Opinion on Orphan Drugs

Multimodal detection of GM2 and GM3 lipid species in the brain of mucopolysaccharidosis type II mouse by serial imaging mass spectrometry and immunohistochemistry

(2016) Martin Dufresne et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Allogeneic Hematopoietic Stem Cell Transplantation in Thirty-Four Pediatric Cases of Mucopolysaccharidosis—A Ten-Year Report from the China Children Transplant Group

(2016) Jianmin Wang et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Cell cycle is disturbed in mucopolysaccharidosis type II fibroblasts, and can be improved by genistein

(2016) Marta Moskot et al.   GENE

Delivery of an Adeno-Associated Virus Vector into Cerebrospinal Fluid Attenuates Central Nervous System Disease in Mucopolysaccharidosis Type II Mice

(2016) Christian Hinderer et al.   HUMAN GENE THERAPY

Comparative study of idursulfase beta and idursulfase in vitro and in vivo

(2016) Chihwa Kim et al.   JOURNAL OF HUMAN GENETICS

Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA

(2016) Barbara King et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

(2016) Francyne Kubaski et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice

(2016) Yohta Shimada et al.   MOLECULAR GENETICS AND METABOLISM

Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II

(2016) Takayuki Yokoi et al.   MOLECULAR GENETICS AND METABOLISM

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 1-year-old male with pathogenic IDS mutation

(2016) Eszter Varga et al.   Stem Cell Research

Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 7-year-old male with pathogenic IDS mutation

(2016) Eszter Varga et al.   Stem Cell Research

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of Mucopolysaccharidosis type II (MPS II) disorder

(2016) Eszter Varga et al.   Stem Cell Research

Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 3-year-old male with pathogenic IDS mutation

(2016) Eszter Varga et al.   Stem Cell Research

Glial degeneration with oxidative damage drives neuronal demise in MPSII disease

(2016) Cristina Zalfa et al.   Cell Death & Disease

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

(2016) Aya Narita et al.   Annals of Clinical and Translational Neurology

Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders

(2016) Marika Salvalaio et al.   PLoS One

Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI

(2015) Wendy E. Heywood et al.   ANALYTICAL CHEMISTRY

In vivo genome editing of the albumin locus as a platform for protein replacement therapy

(2015) R. Sharma et al.   BLOOD

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI

(2015) A. B. Kumar et al.   CLINICAL CHEMISTRY

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

(2015) Joseph Muenzer et al.   GENETICS IN MEDICINE

Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II

(2015) Taichi Wakabayashi et al.   HUMAN GENE THERAPY

Gene therapy for lysosomal storage disorders: a good start

(2015) Alessandra Biffi   HUMAN MOLECULAR GENETICS

Human recombinant lysosomal enzymes produced in microorganisms

(2015) Ángela J. Espejo-Mojica et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II

(2015) Sung Yoon Cho et al.   Orphanet Journal of Rare Diseases

Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids

(2015) Marta Moskot et al.   Scientific Reports

Pharmacokinetics and Bioavailability of a Therapeutic Enzyme (Idursulfase) in Cynomolgus Monkeys after Intrathecal and Intravenous Administration

(2015) Hongsheng Xie et al.   PLoS One

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

(2014) Fortunato Lonardo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry

(2014) Naveen Kumar Chennamaneni et al.   ANALYTICAL CHEMISTRY

Insulin receptor antibody-iduronate 2-sulfatase fusion protein: Pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys

(2014) Ruben J. Boado et al.   BIOTECHNOLOGY AND BIOENGINEERING

Newborn Screening for Lysosomal Storage Diseases

(2014) M. H. Gelb et al.   CLINICAL CHEMISTRY

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome

(2014) Yo Kyung Chung et al.   GLYCOCONJUGATE JOURNAL

Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II

(2014) Kentaro Yokoi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

(2014) Christina Lampe et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

(2014) Rosella Tomanin et al.   Orphanet Journal of Rare Diseases

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

(2014) Ana Fernández-Marmiesse et al.   Orphanet Journal of Rare Diseases

Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center

(2014) Gustavo A. Moreira et al.   Sleep and Breathing

Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice

(2013) Young Bae Sohn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment

(2013) Gianluigi Mazzoccoli et al.   BMC Medical Genomics

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II

(2013) So Yoon Ahn et al.   JOURNAL OF HUMAN GENETICS

Low-Scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12

(2013) Edwin David Morales-Álvarez et al.   JOURNAL OF MICROBIOLOGY

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

(2013) Simon A. Jones et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening and diagnosis of mucopolysaccharidoses

(2013) Shunji Tomatsu et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice

(2013) Kazumasa Akiyama et al.   MOLECULAR GENETICS AND METABOLISM

Early initiation of enzyme replacement therapy for the mucopolysaccharidoses

(2013) Joseph Muenzer   MOLECULAR GENETICS AND METABOLISM

Glycan-based biomarkers for mucopolysaccharidoses

(2013) Roger Lawrence et al.   MOLECULAR GENETICS AND METABOLISM

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

(2013) Encarna Guillén-Navarro et al.   Orphanet Journal of Rare Diseases

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)

(2013) Young Bae Sohn et al.   Orphanet Journal of Rare Diseases

Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved

(2013) E Fusar Poli et al.   Cell Death & Disease

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases

(2012) Rosella Tomanin et al.   ACTA PAEDIATRICA

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II

(2012) Sung Hwa Hong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

(2012) Agnieszka Jurecka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lentiviral vectors: basic to translational

(2012) Toshie Sakuma et al.   BIOCHEMICAL JOURNAL

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

(2012) Raul E. Piña-Aguilar et al.   European Journal of Medical Genetics

Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility

(2012) Lorne A. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

Effect of rapid cessation of enzyme replacement therapy: A report of 5 cases and a review of the literature

(2012) Agnieszka Jurecka et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II

(2012) Takashi Higuchi et al.   MOLECULAR GENETICS AND METABOLISM

Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

(2012) Minke H. de Ru et al.   MOLECULAR GENETICS AND METABOLISM

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

(2012) Jessica de Ruijter et al.   MOLECULAR GENETICS AND METABOLISM

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

(2012) Akemi Tanaka et al.   MOLECULAR GENETICS AND METABOLISM

Patterns of scAAV Vector Insertion Associated With Oncogenic Events in a Mouse Model for Genotoxicity

(2012) Lucia E Rosas et al.   MOLECULAR THERAPY

Disease-specific non–reducing end carbohydrate biomarkers for mucopolysaccharidoses

(2012) Roger Lawrence et al.   Nature Chemical Biology

CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder

(2012) Pericles Calias et al.   PLoS One

Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT)

(2011) Jolanta Marucha et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

(2011) Joseph Muenzer et al.   EUROPEAN JOURNAL OF PEDIATRICS

Mucopolysaccharidosis Type I, Unique Structure of Accumulated Heparan Sulfate and IncreasedN-Sulfotransferase Activity in Mice Lacking α-l-iduronidase

(2011) Rebecca J. Holley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients

(2011) Lorne Andrew Clarke et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

(2011) Renzo Manara et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

(2011) Elizabeth A. Braunlin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II

(2011) J. B. Holt et al.   PEDIATRICS

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

(2011) Huiwen Zhang et al.   PLoS One

Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation

(2011) Jee Hyun Lee et al.   YONSEI MEDICAL JOURNAL

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

(2010) Young Bae Sohn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations

(2010) Louise Lapagesse de Camargo Pinto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

(2010) Brian J. Wolfe et al.   ANALYTICAL CHEMISTRY

Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II

(2010) A Friso et al.   BRITISH JOURNAL OF PHARMACOLOGY

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders

(2010) A Kloska et al.   CLINICAL GENETICS

Human sulfatase transiently and functionally active expressed in E. coli K12

(2010) Raúl A. Poutou-Piñales et al.   ELECTRONIC JOURNAL OF BIOTECHNOLOGY

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

(2010) Joseph Muenzer et al.   GENETICS IN MEDICINE

Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome

(2010) Susanna Lualdi et al.   HUMAN MUTATION

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

(2010) Kia Jane Langford-Smith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II — data from the Hunter Outcome Survey

(2010) Barbara K. Burton et al.   MOLECULAR GENETICS AND METABOLISM

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy

(2010) Sung-Chul Jung et al.   MOLECULES AND CELLS

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

(2010) Louise LC Pinto et al.   Orphanet Journal of Rare Diseases

Replacing the Enzyme  -L-Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type I

(2010) A. D. Dierenfeld et al.   Science Translational Medicine

IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice

(2009) Vinicia Assunta Polito et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses

(2009) Vlasta Fesslová et al.   CARDIOLOGY IN THE YOUNG

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

(2009) I. V. D. Schwartz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

(2009) Robert F. Wynn et al.   JOURNAL OF PEDIATRICS

A novel functional role of iduronate-2-sulfatase in zebrafish early development

(2009) Enrico Moro et al.   MATRIX BIOLOGY

Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation

(2009) Ken Araya et al.   MOLECULAR GENETICS AND METABOLISM

Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry

(2009) Shunji Tomatsu et al.   MOLECULAR GENETICS AND METABOLISM

Multidisciplinary Management of Hunter Syndrome

(2009) J. Muenzer et al.   PEDIATRICS

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)

(2008) A. Friso et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Home treatment with Elaprase® and Naglazyme® is safe in patients with mucopolysaccharidoses types II and VI, respectively

(2008) S. Bagewadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

(2008) Derrick R. Randall et al.   MOLECULAR GENETICS AND METABOLISM

Self-complementary AAV Vectors; Advances and Applications

(2008) Douglas M McCarty   MOLECULAR THERAPY

Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

(2008) R. Martin et al.   PEDIATRICS