Related references
Note: Only part of the references are listed.Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses
Joanna Brokowska et al.
CELL BIOLOGY INTERNATIONAL (2021)
The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I
A. Broomfield et al.
MOLECULAR GENETICS AND METABOLISM (2021)
A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II
Torayuki Okuyama et al.
MOLECULAR THERAPY (2021)
Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice
Hideto Morimoto et al.
MOLECULAR THERAPY (2021)
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)
Alla Nikolaevna Semyachkina et al.
BMC MEDICAL GENOMICS (2021)
The natural history of neurocognition in MPS disorders: A review
Elsa G. Shapiro et al.
MOLECULAR GENETICS AND METABOLISM (2021)
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)
N. Guffon et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement
Christiane S. Hampe et al.
BIOMOLECULES (2021)
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil
Roberto Giugliani et al.
MOLECULAR THERAPY (2021)
Evaluating strategies to manage and endure challenging behaviors in mucopolysaccharidoses
Nathan Grant
ORPHANET JOURNAL OF RARE DISEASES (2021)
Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II
Joo-Hyun Seo et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2021)
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England
A. Broomfield et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies
Lidia Gaffke et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms
Gustavo M. Viana et al.
JOURNAL OF CLINICAL MEDICINE (2020)
Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory
Lena Provoost et al.
ANIMALS (2020)
Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation
Yasuyuki Suzuki et al.
DIAGNOSTICS (2020)
Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations
Rossella Parini et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients
Akhil Bhalla et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Enzyme replacement therapy for the treatment of Hunter disease: A systematic review with narrative synthesis and meta-analysis
Philip Erick Wikman-Jorgensen et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy
Haoyue Zhang et al.
CLINICA CHIMICA ACTA (2020)
Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course
Joo-Hyun Seo et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2020)
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation
Miho Wada et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2020)
The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome
J. B. Eisengart et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2020)
Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future
Madeleine Taylor et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2019)
Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I
Kelly E. King et al.
NEUROLOGY (2019)
Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS
Iskren Menkovic et al.
BIOANALYSIS (2019)
Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis
Hsiang-Yu Lin et al.
SCIENTIFIC REPORTS (2019)
Heparan sulfate proteoglycans: The sweet side of development turns sour in mucopolysaccharidoses
Valeria De Pasquale et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2019)
Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I
Natalia Gomez-Ospina et al.
NATURE COMMUNICATIONS (2019)
Proteomic approaches in the discovery of potential mucopolysaccharidosis type II
Xiaozhou Yuan et al.
CLINICA CHIMICA ACTA (2019)
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial
Torayuki Okuyama et al.
MOLECULAR THERAPY (2019)
Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain
Carolina Cardona et al.
HELIYON (2019)
Brain-targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms
Helene F. E. Gleitz et al.
EMBO MOLECULAR MEDICINE (2018)
The role of heparan sulfates in protein aggregation and their potential impact on neurodegeneration
Auriane Maiza et al.
FEBS LETTERS (2018)
Heparan Sulfate Proteoglycans as Relays of Neuroinflammation
Paul O'Callaghan et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2018)
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
Young Bae Sohn et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
Chester B. Whitley et al.
JOURNAL OF PEDIATRICS (2018)
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II
Hiroyuki Sonoda et al.
MOLECULAR THERAPY (2018)
Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome
Elsa G. Shapiro et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects
Roberto Giugliani et al.
EXPERT OPINION ON ORPHAN DRUGS (2018)
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14)
Masashi Uehara et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
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
Noboru Tanaka et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders
Brian W. Bigger et al.
MOLECULAR GENETICS AND METABOLISM (2018)
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses
Hsiang-Yu Lin et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2018)
Sangamo's landmark genome editing trial gets mixed reception
Cormac Sheridan
NATURE BIOTECHNOLOGY (2018)
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses
Rita Barone et al.
ITALIAN JOURNAL OF PEDIATRICS (2018)
Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists
Lucia Boffi et al.
ITALIAN JOURNAL OF PEDIATRICS (2018)
Mucopolysaccharidoses: early diagnostic signs in infants and children
Cinzia Galimberti et al.
ITALIAN JOURNAL OF PEDIATRICS (2018)
Hunter Syndrome Diagnosed by Otorhinolaryngologist
Ayako Hashimoto et al.
CASE REPORTS IN OTOLARYNGOLOGY (2018)
Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome)
Ramon Ernesto Jimenez-Arredondo et al.
NEUROLOGICAL SCIENCES (2017)
Mucopolysaccharidosis VI: Pathophysiology, diagnosis and treatment
Paul R. Harmatz et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2017)
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model
Marika Salvalaio et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
Barbara K. Burton et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Epidemiology of mucopolysaccharidoses
Shaukat A. Khan et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Quantitative neuroimaging in mucopolysaccharidoses clinical trials
Igor Nestrasil et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses
Elsa G. Shapiro et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Proteomic analysis of mucopolysaccharidosis I mouse brain with two-dimensional polyacrylamide gel electrophoresis
Li Ou et al.
MOLECULAR GENETICS AND METABOLISM (2017)
A long-term extension study evaluating intrathecal idursulfase-IT in children with Hunter syndrome and cognitive impairment
Joseph Muenzer et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Epilepsy in mucopolysaccharidosis disorders
Maurizio Scarpa et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Early disease progression of Hurler syndrome
Bridget T. Kiely et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Open issues in Mucopolysaccharidosis type I-Hurler
Rossella Parini et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II
Helene F. E. Gleitz et al.
PLOS ONE (2017)
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future
David A. H. Whiteman et al.
DRUG DESIGN DEVELOPMENT AND THERAPY (2017)
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up
Anneliese L. Barth et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2017)
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II
Francyne Kubaski et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2017)
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
L. Dvorakova et al.
CLINICAL GENETICS (2017)
The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations
Andreas R. Janecke et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II
Joseph Muenzer et al.
GENETICS IN MEDICINE (2016)
The lysosomal storage disease continuum with ageing-related neurodegenerative disease
Emyr Lloyd-Evans et al.
AGEING RESEARCH REVIEWS (2016)
Allogeneic Hematopoietic Stem Cell Transplantation in Thirty-Four Pediatric Cases of Mucopolysaccharidosis-A Ten Year Report from the China Children Transplant Group
Jianmin Wang et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2016)
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome
M. A. Alcantara-Ortigoza et al.
CLINICAL GENETICS (2016)
A novel explanation of corneal clouding in a bone marrow transplant treated patient with Hurler syndrome
Ching Yuan et al.
EXPERIMENTAL EYE RESEARCH (2016)
Delivery of an Adeno-Associated Virus Vector into Cerebrospinal Fluid Attenuates Central Nervous System Disease in Mucopolysaccharidosis Type II Mice
Christian Hinderer et al.
HUMAN GENE THERAPY (2016)
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA
Elsa G. Shapiro et al.
JOURNAL OF PEDIATRICS (2016)
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
Motomichi Kosuga et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Emotional-behavioral functioning in individuals with MPS I: A longitudinal approach
Kelly King et al.
MOLECULAR GENETICS AND METABOLISM (2016)
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)
Rossella Parini et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
Mona Schmidt et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI
Alia Ahmed et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2016)
A cord blood monocyte-derived cell therapy product accelerates brain remyelination
Arjun Saha et al.
JCI INSIGHT (2016)
The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry
Ryuichi Mashima et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2016)
CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome)
Sandra Motas et al.
JCI INSIGHT (2016)
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
Wendy E. Heywood et al.
ANALYTICAL CHEMISTRY (2015)
In vivo genome editing of the albumin locus as a platform for protein replacement therapy
Rajiv Sharma et al.
BLOOD (2015)
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
Mieke Aldenhoven et al.
BLOOD (2015)
Interactions of signaling proteins, growth factors and other proteins with heparan sulfate: mechanisms and mysteries
Paul C. Billings et al.
CONNECTIVE TISSUE RESEARCH (2015)
Preclinical characterization of DUOC-01, a cell therapy product derived from banked umbilical cord blood for use as an adjuvant to umbilical cord blood transplantation for treatment of inherited metabolic diseases
Joanne Kurtzberg et al.
CYTOTHERAPY (2015)
Heparan sulfate proteoglycans: a sugar code for vertebrate development?
Fabienne E. Poulain et al.
DEVELOPMENT (2015)
Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II
Taichi Wakabayashi et al.
HUMAN GENE THERAPY (2015)
Mental retardation in mucopolysaccharidoses correlates with high molecular weight urinary heparan sulphate derived glucosamine
G. V. Coppa et al.
METABOLIC BRAIN DISEASE (2015)
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment
Elsa G. Shapiro et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation
Julian Tanjuakio et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II
Brianna Yund et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice
Guilherme Baldo et al.
MOLECULAR GENETICS AND METABOLISM (2015)
A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: An improved clinical screening test for the mucopolysaccharidoses
Haoyue Zhang et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy
Eveline J. Langereis et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Sanfilippo syndrome: Overall review
Fernando Andrade et al.
PEDIATRICS INTERNATIONAL (2015)
Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry
Arin K. Oestreich et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2015)
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients
Rossella Parini et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2015)
Insulin Receptor Antibody-Iduronate 2-Sulfatase Fusion Protein: Pharmacokinetics, Anti-Drug Antibody, and Safety Pharmacology in Rhesus Monkeys
Ruben J. Boado et al.
BIOTECHNOLOGY AND BIOENGINEERING (2014)
The natural history of MPS I: global perspectives from the MPS I Registry
Michael Beck et al.
GENETICS IN MEDICINE (2014)
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome
Yo Kyung Chung et al.
GLYCOCONJUGATE JOURNAL (2014)
Heparan Sulfate Inhibits Hematopoietic Stem and Progenitor Cell Migration and Engraftment in Mucopolysaccharidosis I
H. Angharad Watson et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Current and potential therapeutic strategies for mucopolysaccharidoses
H. Noh et al.
JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS (2014)
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Christina Lampe et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome
Alia Ahmed et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
A. C. Brusius-Facchin et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Soluble Heparan Sulfate Fragments Generated by Heparanase Trigger the Release of Pro-Inflammatory Cytokines through TLR-4
Katharine J. Goode et al.
PLOS ONE (2014)
Extracellular distribution of diffusible growth factors controlled by heparan sulfate proteoglycans during mammalian embryogenesis
Isao Matsuo et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2014)
0 Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome
Pravin Patel et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2014)
Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice
Young Bae Sohn et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Blood-Brain Barrier Molecular Trojan Horse Enables Imaging of Brain Uptake of Radioiodinated Recombinant Protein in the Rhesus Monkey
Ruben J. Boado et al.
BIOCONJUGATE CHEMISTRY (2013)
Mucopolysaccharidosis Type IIIA presents as a variant of Kluver-Bucy syndrome
Michael Potegal et al.
JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY (2013)
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II
So Yoon Ahn et al.
JOURNAL OF HUMAN GENETICS (2013)
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders
E. M. Cross et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Enzyme Replacement is Associated with Better Cognitive Outcomes after Transplant in Hurler Syndrome
Julie B. Eisengart et al.
JOURNAL OF PEDIATRICS (2013)
Particular features of neurological symptoms with children suffering from MPS syndrome type II
Ludmila Kuzenkova et al.
MOLECULAR GENETICS AND METABOLISM (2013)
The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)
Simon A. Jones et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice
Guilherme Baldo et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings
Go Tajima et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
Young Bae Sohn et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Heparan sulfate proteoglycans mediate internalization and propagation of specific proteopathic seeds
Brandon B. Holmes et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis
Kristina T. Fahnehjelm et al.
ACTA OPHTHALMOLOGICA (2012)
Auditory Characteristics and Therapeutic Effects of Enzyme Replacement in Mouse Model of the Mucopolysaccharidosis (MPS) II
Sung Hwa Hong et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus
Joseph Muenzer et al.
EUROPEAN JOURNAL OF PEDIATRICS (2012)
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry
Kristin D'Aco et al.
EUROPEAN JOURNAL OF PEDIATRICS (2012)
Glycosaminoglycans: key players in cancer cell biology and treatment
Nikos Afratis et al.
FEBS JOURNAL (2012)
Correction of Pathological Accumulation of Glycosaminoglycans in Central Nervous System and Peripheral Tissues of MPSIIIA Mice Through Systemic AAV9 Gene Transfer
Albert Ruzo et al.
HUMAN GENE THERAPY (2012)
Hearing loss in patients with mucopolysaccharidosis II: Data from HOS - the Hunter Outcome Survey
Annerose Keilmann et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II
Takashi Higuchi et al.
MOLECULAR GENETICS AND METABOLISM (2012)
An exploratory study of brain function and structure in mucopolysaccharidosis type I: Long term observations following hematopoietic cell transplantation (HCT)
Elsa Shapiro et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan
Akemi Tanaka et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses
Roger Lawrence et al.
NATURE CHEMICAL BIOLOGY (2012)
CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder
Pericles Calias et al.
PLOS ONE (2012)
Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB
Fiona L. Wilkinson et al.
PLOS ONE (2012)
Hunter Syndrome: Resolution of Extensive Typical Skin Lesions After 9 Months of Enzyme Replacement Therapy with Idursulfase
Laura L. Marin et al.
PEDIATRIC DERMATOLOGY (2012)
Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation
Alessia Capotondo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Brain-Penetrating IgG-Iduronate 2-Sulfatase Fusion Protein for the Mouse
Qing-Hui Zhou et al.
DRUG METABOLISM AND DISPOSITION (2012)
Nodular Lesions of Choroid Plexus in Hurler Disease
Boleslaw Lach et al.
FETAL AND PEDIATRIC PATHOLOGY (2011)
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
Joseph Muenzer et al.
GENETICS IN MEDICINE (2011)
Mucopolysaccharidosis Type I, Unique Structure of Accumulated Heparan Sulfate and Increased N-Sulfotransferase Activity in Mice Lacking α-L-iduronidase
Rebecca J. Holley et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
Elizabeth A. Braunlin et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Early Clinical Markers of Central Nervous System Involvement in Mucopolysaccharidosis Type II
Joshua Holt et al.
JOURNAL OF PEDIATRICS (2011)
Prevalence and Characterization of Cardiac Involvement in Hunter Syndrome
Christoph Kampmann et al.
JOURNAL OF PEDIATRICS (2011)
Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI
Christiane Auray-Blais et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-Blood-Brain Barrier Gene Delivery
Haiyan Fu et al.
MOLECULAR THERAPY (2011)
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Maurizio Scarpa et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Respiratory Manifestations in Mucopolysaccharidoses
Marianne S. Muhlebach et al.
PAEDIATRIC RESPIRATORY REVIEWS (2011)
Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II
Joshua B. Holt et al.
PEDIATRICS (2011)
Echocardiographic study of paediatric patients with mucopolysaccharidosis
Gabriela N. Leal et al.
CARDIOLOGY IN THE YOUNG (2010)
THE NATURAL HISTORY OF THE SEVERE FORM OF HUNTER'S SYNDROME: A STUDY BASED ON 52 CASES
I. D. Young et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey
Nancy J. Mendelsohn et al.
GENETICS IN MEDICINE (2010)
Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy
Vinicia Assunta Polito et al.
HUMAN MOLECULAR GENETICS (2010)
Heparan Sulfate Domain Organization and Sulfation Modulate FGF-induced Cell Signaling
Nadja Jastrebova et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation
Dan Wang et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy
Sung-Chul Jung et al.
MOLECULES AND CELLS (2010)
Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different?
Grzegorz Wegrzyn et al.
MEDICAL HYPOTHESES (2010)
Involvement of the Toll-like receptor 4 pathway and use of TNF-α antagonists for treatment of the mucopolysaccharidoses
Calogera M. Simonaro et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Orthopedic manifestations in patients with muco polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey
Bianca Link et al.
ORTHOPEDIC REVIEWS (2010)
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice
Vinicia Assunta Polito et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Secondary lipid accumulation in lysosomal disease
Steven U. Walkley et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
Vlasta Fesslova et al.
CARDIOLOGY IN THE YOUNG (2009)
Mucopolysaccharidosis VI: the Italian experience
Maurizio Scarpa et al.
EUROPEAN JOURNAL OF PEDIATRICS (2009)
Heparan sulfate proteoglycans in extravasation: assisting leukocyte guidance
Johanna W. A. M. Celie et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2009)
Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years
Nathalie Guffon et al.
JOURNAL OF PEDIATRICS (2009)
Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation
Ken Araya et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2009)
Mucopolysaccharidosis I: Management and Treatment Guidelines
Joseph Muenzer et al.
PEDIATRICS (2009)
The clinical outcome of Hurler syndrome after stem cell transplantation
Mieke Aldenboven et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2008)
Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome
Dao Pan et al.
BRAIN RESEARCH (2008)
Development of the Corneal Stroma, and the Collagen-Proteoglycan Associations That Help Define Its Structure and Function
Andrew J. Quantock et al.
DEVELOPMENTAL DYNAMICS (2008)
Initial report from the Hunter Outcome Survey
J. Edmond Wraith et al.
GENETICS IN MEDICINE (2008)
Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed
S. Al Sawaf et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Recognition and diagnosis of Mucopolysaccharidosis II (Hunter syndrome)
Rick Martin et al.
PEDIATRICS (2008)
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
J. Edmond Wraith et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
Enzyme reconstitution/replacement therapy for lysosomal storage diseases
T. Andrew Burrow et al.
CURRENT OPINION IN PEDIATRICS (2007)
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)
A. R. Garcia et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients
T. Ochiai et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2007)
The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis
Claus Ruehland et al.
FEBS JOURNAL (2007)
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II
Antony R. Garcia et al.
MOLECULAR GENETICS AND METABOLISM (2007)
The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
Gregory M. Pastores et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Heparan sulphate proteoglycans fine-tune mammalian physiology
Joseph R. Bishop et al.
NATURE (2007)
Mucopolysaccharidosis type II: an update on mutation spectrum
Roseline Froissart et al.
ACTA PAEDIATRICA (2007)
A clinical study of 77 patients with mucopolysaccharidosis type II
Ida V. D. Schwartz et al.
ACTA PAEDIATRICA (2007)
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Glycosylation in cellular mechanisms of health and disease
Kazuaki Ohtsubo et al.
CELL (2006)
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy
Eyvind Rodahl et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2006)
Multiprotein signalling complexes: regional assembly on heparan sulphate
J. T. Gallagher
BIOCHEMICAL SOCIETY TRANSACTIONS (2006)
A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates
M Fuller et al.
GLYCOBIOLOGY (2006)
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery
M Cardone et al.
HUMAN MOLECULAR GENETICS (2006)
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts
A Friso et al.
JOURNAL OF GENE MEDICINE (2005)
Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells
CD Pan et al.
BLOOD (2005)
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene
C Bredrup et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Prediction of neuropathology in mucopolysaccharidosis I patients
M Fuller et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses
S Tomatsu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
ACMM Azevedo et al.
CLINICAL GENETICS (2004)
Secondary accumulation of gangliosides in lysosomal storage disorders
SU Walkley
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2004)
Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
R McGlynn et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2004)
The effect of haematopoietic stem cell transplant on papules with 'pebbly' appearance in Hunter's syndrome
K Ito et al.
BRITISH JOURNAL OF DERMATOLOGY (2004)
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome
SL Staba et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Mammalian brain morphogenesis and midline axon guidance require heparan sulfate
M Inatani et al.
SCIENCE (2003)
Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses
M Hochuli et al.
NMR IN BIOMEDICINE (2003)
Dermatan sulfate: new functions from an old glycosaminoglycan
JM Trowbridge et al.
GLYCOBIOLOGY (2002)
Cardiac structural involvement in mucopolysaccharidoses
D Rigante et al.
CARDIOLOGY (2002)
Heparan sulphate proteoglycan in scleromyxedema promotes FGF-2 activity
TF Warner et al.
PATHOLOGY RESEARCH AND PRACTICE (2002)
Role of heparan sulfate as a tissue-specific regulator of FGF-4 and FGF receptor recognition
BL Allen et al.
JOURNAL OF CELL BIOLOGY (2001)
Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation
T Seto et al.
ANNALS OF NEUROLOGY (2001)
Share Paper
