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

Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy — Results of a pilot study

(2016) Katarzyna Hetmańczyk et al.   CLINICAL BIOCHEMISTRY

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

Metachromatic Leukodystrophy

(2016) Florian S. Eichler et al.   JOURNAL OF CHILD NEUROLOGY

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China

(2016) Xueru Chen et al.   JOURNAL OF HUMAN GENETICS

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

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

Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI

(2016) Lynda E. Polgreen et al.   MOLECULAR GENETICS AND METABOLISM

Reversal of established bone pathology in MPS VII mice following lentiviral-mediated gene therapy

(2016) Ainslie L.K. Derrick-Roberts et al.   MOLECULAR GENETICS AND METABOLISM

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

(2016) Calogera M. Simonaro et al.   PLoS One

Hematopoietic stem cell transplant for the mucopolysaccharidoses

(2016) S.H. Lum et al.   Expert Opinion on Orphan Drugs

Lysosomal Physiology

(2015) Haoxing Xu et al.   Annual Review of Physiology

Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines

(2015) Mieke Aldenhoven et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Early HSCT corrects the skeleton in MPS

(2015) J. Kurtzberg   BLOOD

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

OP45 – 3024: Efficient lentiviral vector-mediated hematopoietic stem cell gene therapy in MNGIE mice

(2015) R. Yadak et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Age-dependency of glycosaminoglycan content in lumbar discs: A 3t gagcEST study

(2015) Anja Müller-Lutz et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

(2015) Julian Tanjuakio et al.   MOLECULAR GENETICS AND METABOLISM

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

(2015) Nathalie Guffon et al.   Orphanet Journal of Rare Diseases

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

(2015) Roberto Giugliani et al.   Expert Opinion on Orphan Drugs

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

(2014) Roberto Giugliani et al.   GENETICS AND MOLECULAR BIOLOGY

Heparin co-factor II Thrombin complex as a biomarker for mucopolysaccharidosis: Indian experience

(2014) Sanjeev Kumar Pandey et al.   INDIAN PEDIATRICS

Current and potential therapeutic strategies for mucopolysaccharidoses

(2014) H. Noh et al.   JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS

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

Neuroimaging findings in Hunter disease

(2014) Georgios Tsivgoulis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

(2013) Katherine H. Kim et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening and diagnosis of mucopolysaccharidoses

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

Cancer cell exosomes depend on cell-surface heparan sulfate proteoglycans for their internalization and functional activity

(2013) H. C. Christianson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

(2012) D.I. Zafeiriou et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls

(2012) Barbara K. Burton et al.   EUROPEAN JOURNAL OF PEDIATRICS

Mucopolysacccharidoses: from understanding to treatment, a century of discoveries

(2012) Roberto Giugliani   GENETICS AND MOLECULAR BIOLOGY

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

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

Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options

(2011) E. Oussoren et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics

(2011) Ramakrishna Sista et al.   CLINICA CHIMICA ACTA

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

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

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

(2011) Joseph Muenzer et al.   GENETICS IN MEDICINE

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

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

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

Early Clinical Markers of Central Nervous System Involvement in Mucopolysaccharidosis Type II

(2011) Joshua Holt et al.   JOURNAL OF PEDIATRICS

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

(2011) Adviye A. Tolun et al.   MOLECULAR GENETICS AND METABOLISM

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

(2011) Maurizio Scarpa et al.   Orphanet Journal of Rare Diseases

Case 174: Hunter Syndrome

(2011) Jonathan D. Samet et al.   RADIOLOGY

Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator

(2011) L. A. Clarke   RHEUMATOLOGY

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

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

Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation

(2010) Kazuko Sukegawa et al.   CLINICAL GENETICS

Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl

(2010) J. T. R. Clarke et al.   CLINICAL GENETICS

Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation

(2010) D. M. Broadhead et al.   CLINICAL GENETICS

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

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

(2010) Shunji Tomatsu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI

(2010) Christiane Auray-Blais 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

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

(2009) Hsiang-Yu Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions

(2009) Vinod K. Prasad et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

(2009) S. A. Jones et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years

(2009) Nathalie Guffon et al.   JOURNAL OF PEDIATRICS

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

Diagnosis and management of respiratory involvement in Hunter syndrome

(2008) Wolfgang Kamin   ACTA PAEDIATRICA

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

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

Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA

(2008) Chantelle McIntyre et al.   MOLECULAR GENETICS AND METABOLISM

Umbilical cord-blood transplantations from unrelated donors in patients with inherited metabolic diseases: Single-institute experience

(2008) Sadao Tokimasa et al.   PEDIATRIC TRANSPLANTATION

Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

(2008) R. Martin et al.   PEDIATRICS

Mechanism of Glycosaminoglycan-Mediated Bone and Joint Disease

(2007) Calogera M. Simonaro et al.   AMERICAN JOURNAL OF PATHOLOGY