Mucopolysaccharidosis Type VI, an Updated Overview of the Disease

The natural history of neurocognition in MPS disorders: A review

(2021) Elsa Shapiro et al.   MOLECULAR GENETICS AND METABOLISM

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study

(2021) Dafne D.G. Horovitz et al.   MOLECULAR GENETICS AND METABOLISM

Epidemiology of Mucopolysaccharidoses Update

(2021) Betul Celik et al.   Diagnostics

Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy

(2021) Paula Garcia et al.   MOLECULAR GENETICS AND METABOLISM

Mol* Viewer: modern web app for 3D visualization and analysis of large biomolecular structures

(2021) David Sehnal et al.   NUCLEIC ACIDS RESEARCH

Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report

(2021) Ming-Fang He et al.   BMC Ophthalmology

Double valve replacement in a patient with Maroteaux – Lamy syndrome as an ultimate team challenge

(2021) Alexandros Agron Demis et al.   Journal of Cardiothoracic Surgery

MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment

(2021) Eugeni Entchev et al.   MOLECULAR GENETICS AND METABOLISM

Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses

(2020) Emil Kakkis et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

(2020) Yin-Hsiu Chien et al.   Orphanet Journal of Rare Diseases

Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity

(2020) Maria Francisca Coutinho et al.   Diagnostics

Odiparcil, a potential glycosaminoglycans clearance therapy in mucopolysaccharidosis VI—Evidence from in vitro and in vivo models

(2020) Eugeni Entchev et al.   PLoS One

Advances in glycosaminoglycan detection

(2020) Shaukat A. Khan et al.   MOLECULAR GENETICS AND METABOLISM

RCSB Protein Data Bank: powerful new tools for exploring 3D structures of biological macromolecules for basic and applied research and education in fundamental biology, biomedicine, biotechnology, bioengineering and energy sciences

(2020) Stephen K Burley et al.   NUCLEIC ACIDS RESEARCH

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

(2020) Mike Broeders et al.   Molecular Therapy-Methods & Clinical Development

A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis

(2020) Barbara Zapała et al.   Molecular Genetics and Metabolism Reports

Low incidence of hepatocellular carcinoma in mice and cats treated with systemic adeno-associated viral vectors

(2020) Rita Ferla et al.   Molecular Therapy-Methods & Clinical Development

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics

(2019) Abdellah Tebani et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review

(2019) Dalila Fernandes Gomes et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme replacement therapy outcomes across the disease spectrum: findings from the mucopolysaccharidosis VI Clinical Surveillance Program

(2019) Paul R Harmatz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI

(2019) Rokhsareh Jafaryazdi et al.   MOLECULAR BIOLOGY REPORTS

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

(2019) Mehmet Umut Akyol et al.   Orphanet Journal of Rare Diseases

Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI

(2019) Majid Aminzadeh et al.   GENE

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

(2019) Christina Lampe et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

(2019) Clifford Ronald Scott et al.   JOURNAL OF PEDIATRICS

Mucopolysaccharidoses: overview of neuroimaging manifestations

(2018) Manal Nicolas-Jilwan et al.   PEDIATRIC RADIOLOGY

Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

(2018) Jennifer T. Saville et al.   GENETICS IN MEDICINE

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene

(2018) Rosella Tomanin et al.   HUMAN MUTATION

The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

(2018) Sandra Pohl et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy

(2018) Myriam Ley-Martos et al.   MEDICINE

Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls

(2018) Filippo Pinto e Vairo et al.   PEDIATRICS

New treatment method for mucopolysaccharidosis type VI by liver transplantation

(2018) Sumika Toyama et al.   PEDIATRICS INTERNATIONAL

Mucopolysaccharidosis VI pathophysiology diagnosis and treatment

(2017) Paul Harmatz   Frontiers in Bioscience-Landmark

Recombinant Adeno-Associated Viral Integration and Genotoxicity: Insights from Animal Models

(2017) Randy J. Chandler et al.   HUMAN GENE THERAPY

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI

(2017) Esmee Oussoren et al.   MOLECULAR GENETICS AND METABOLISM

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

(2017) P. Harmatz et al.   MOLECULAR GENETICS AND METABOLISM

Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene

(2017) Ping Wang et al.   VETERINARY PATHOLOGY

Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI

(2017) Rita Ferla et al.   Molecular Therapy-Methods & Clinical Development

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

(2016) J.F. Franco et al.   GENETICS AND MOLECULAR RESEARCH

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

Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease

(2016) Marialuisa Alliegro et al.   MOLECULAR THERAPY

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H

(2016) Gerald V. Raymond et al.   Scientific Reports

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

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome

(2015) Berendine J. Ebbink et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells

(2015) Matilda Jackson et al.   MOLECULAR GENETICS AND METABOLISM

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I

(2015) Jonathan M. Heppner et al.   MOLECULAR GENETICS AND METABOLISM

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

(2015) Marta Gómez-Grau et al.   PLoS One

Formylglycine, a Post-Translationally Generated Residue with Unique Catalytic Capabilities and Biotechnology Applications

(2014) Mason J. Appel et al.   ACS Chemical Biology

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study

(2014) Roberto Giugliani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Similar Therapeutic Efficacy Between a Single Administration of Gene Therapy and Multiple Administrations of Recombinant Enzyme in a Mouse Model of Lysosomal Storage Disease

(2014) Rita Ferla et al.   HUMAN GENE THERAPY

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

(2014) Fabiana Moura Costa-Motta et al.   HUMAN HEREDITY

Prevalence rates of mucopolysaccharidoses in Poland

(2014) Agnieszka Jurecka et al.   JOURNAL OF APPLIED GENETICS

Dose Responsive Effects of Subcutaneous Pentosan Polysulfate Injection in Mucopolysaccharidosis Type VI Rats and Comparison to Oral Treatment

(2014) Michael Frohbergh et al.   PLoS One

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

(2013) Agnieszka Jurecka et al.   CLINICAL RHEUMATOLOGY

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

(2013) Piranit Nik Kantaputra et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

(2013) Paul R. Harmatz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pentosan Polysulfate: A Novel Therapy for the Mucopolysaccharidoses

(2013) Edward H. Schuchman et al.   PLoS One

Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation

(2012) Young Bae Sohn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Gene Therapy for Mucopolysaccharidosis Type VI Is Effective in Cats Without Pre-Existing Immunity to AAV8

(2012) Rita Ferla et al.   HUMAN GENE THERAPY

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series

(2012) Anke Thümler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

(2012) Rosa Bartolomeo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

(2012) Alon Lai et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

Expert recommendations for the laboratory diagnosis of MPS VI

(2012) T. Wood et al.   MOLECULAR GENETICS AND METABOLISM

Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats

(2012) Katherine P Ponder et al.   MOLECULAR THERAPY

Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene

(2012) RD Jolly et al.   NEW ZEALAND VETERINARY JOURNAL

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

(2011) Christian J. Hendriksz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI

(2011) Mahoko Furujo et al.   MOLECULAR GENETICS AND METABOLISM

Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene

(2011) I. Gottwald et al.   MOLECULAR GENETICS AND METABOLISM

Anti-TNF-Alpha Therapy Enhances the Effects of Enzyme Replacement Therapy in Rats with Mucopolysaccharidosis Type VI

(2011) Efrat Eliyahu et al.   PLoS One

Diagnosis of the mucopolysaccharidoses

(2011) T. J. A. Lehman et al.   RHEUMATOLOGY

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

(2010) Hissa Moammar et al.   ANNALS OF SAUDI MEDICINE

Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis

(2010) S. Ferrari et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

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

Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI

(2010) Sean Turbeville et al.   MOLECULAR GENETICS AND METABOLISM

Long-term Amelioration of Feline Mucopolysaccharidosis VI After AAV-mediated Liver Gene Transfer

(2010) Gabriella Cotugno et al.   MOLECULAR THERAPY

Mucopolysaccharidosis VI

(2010) Vassili Valayannopoulos et al.   Orphanet Journal of Rare Diseases

Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study

(2009) JJ McGill et al.   CLINICAL GENETICS

Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues

(2009) Sharon Byers et al.   MOLECULAR GENETICS AND METABOLISM

Involvement of the Toll-like receptor 4 pathway and use of TNF-  antagonists for treatment of the mucopolysaccharidoses

(2009) C. M. Simonaro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered olfactory epithelial structure and function in feline models of mucopolysaccharidoses I and VI

(2008) Fritz W. Lischka et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: Insight into mucopolysaccharidosis type VI

(2008) Seiji Saito et al.   MOLECULAR GENETICS AND METABOLISM

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

(2008) Paul Harmatz et al.   MOLECULAR GENETICS AND METABOLISM