Disease: Mucopolysaccharidosis type VI
- A glycomic workflow for LC-MS/MS analysis of urine glycosaminoglycan biomarkers in mucopolysaccharidoses
- A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI - a case report
- Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review)
- Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA
- Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score
- Airway management in mucopolysaccharidosis: a retrospective case series review
- Airway management of a child with mucopolysaccharidosis undergoing cervical spine surgery: A case report
- Atlantoaxial instability in a case of Maroteaux-Lamy syndrome
- Awake airway endoscopy in mucopolysaccharidosis: a case report
- Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)
- Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study
- Case Report: Reinterpretation and Reclassification of <em>ARSB</em>:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the <em>CDH23</em> Gene
- Causes of death in mucopolysaccharidoses
- Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis
- Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series
- Clinical, Endocrine and Genetic spectrums of Mucopolysaccharidoses type VI in Duhok city, Kurdistan Region, Iraq
- Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
- Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
- Consensus on diagnosis and treatment of mucopolysaccharidosis A
- Consensus on diagnosis and treatment of mucopolysaccharidosis ⅣA
- Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia
- COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience
- Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach
- Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)
- Defect-free graphene enhances enzyme delivery to fibroblasts derived from patients with lysosomal storage disorders
- Delayed Onset Post-Operative Neurologic Deficit in a Patient With Mucopolysaccharidosis type VI: A Case Report
- Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses
- Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries
- Double valve replacement in a patient with Maroteaux - Lamy syndrome as an ultimate team challenge
- Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI
- Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
- Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI
- Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
- Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities
- Evaluation of bone health in patients with mucopolysaccharidosis
- Evaluation of cardiac findings in mucopolysaccharidosis
- Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI
- Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report
- Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
- Flaxseed extract reduces tissue accumulation and enhances urinary excretion of chondroitin sulphate in the rat: a possible new path in substrate reduction therapy for mucopolysaccharidosis
- Functional results after carpal tunnel release in mucopolysaccharidosis
- Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human <em>ARSB</em> mutation knock-in
- Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in
- Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI
- Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis
- Hearing Loss in Mucopolysaccharidosis
- Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis
- Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies
- Increased Cerebral Serum Amyloid A2 and Parameters of Oxidation in Arylsulfatase B (N-Acetylgalactosamine-4-Sulfatase)-Null Mice
- Increased Cerebral Serum Amyloid A2 and Parameters of Oxidation in Arylsulfatase B (N-Acetylgalactosamine-4-Sulfatase)-Null Mice
- Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI
- Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI
- Long-term outcome of hematopoietic stem cell transplantation in two children with Mucopolysaccharidosis
- Mandibular condyle morphology among patients with mucopolysaccharidosis: An observational study of panoramic radiographs
- Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression
- Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
- Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)
- MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment
- Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients
- Mucopolysaccharidosis Type VI with Recurrent Chest Infection
- Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
- Mucopolysaccharidosis VI in a European Shorthair cat: Neurological presentation, computed tomography findings and genetic investigation
- Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis
- Neutrophils and monocytes with increased azurophilic granules resembling toxic changes in mucopolysaccharidosis type VI
- New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases
- Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI
- Objectively measuring anterior segment alterations in the eyes of mucopolysaccharidoses: Its utility in early diagnosis of glaucoma
- Oral manifestations of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI)
- Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil
- Ovarian Mucinous Carcinoma in a Pediatric Patient With Maroteaux-Lamy Syndrome
- Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study
- Phenotypic expansion of ARSK-related mucopolysaccharidosis
- Preoperative cardiac POCUS for urgent surgery in a patient with Maroteaux-Lamy syndrome
- Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases
- Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies
- Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry
- Radiographic Findings of Mucopolysaccharidosis and Comparison with Bone Mineral Density: A Study from Southeastern Turkey
- Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey
- Real-world pharmacovigilance analysis of galsulfase: a study based on the FDA adverse event reporting system (FAERS) database
- Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models
- Safe and effective liver-directed AAV-mediated homology-independent targeted integration in mouse models of inherited diseases
- Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
- Skeletal phenotype amelioration in mucopolysaccharidosis VI requires intervention at the earliest stages of postnatal development
- Specific GAG ratios in the diagnosis of mucopolysaccharidoses
- Spinal cord compression in patients with mucopolysaccharidosis
- Staged Bilateral Total Hip Arthroplasty in a 17-Year-Old With Type VI Mucopolysaccharidosis
- Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report
- Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots
- The clinical and genotypic-phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study
- The experiences and support needs of siblings of people with mucopolysaccharidosis
- The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature
- The impact of Chinese COVID-19 pandemic on the incidence of peripheral facial nerve paralysis after optimizing policies
- The intermediate outcomes of delegation of obligations of medicinal support of patients with rare diseases to the Federal level in 2019-2020
- The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis
- Transversus thoracis muscle plane blocks for a patient with Maroteaux-Lamy syndrome undergoing mitral valve replacement
- Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study
- Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses
- Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants
- Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI
- Visual impairment in mucopolysaccharidosis VI