Trusted Resources: Education
Scientific literature and patient education texts
The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: “The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis”Frontiers in molecular biosciences Year: 2021
Plasma Proteomic Analysis in Morquio A DiseaseInternational journal of molecular sciences Year: 2021
Detailed Pedigree Analyses and Prenatal Diagnosis for a Family With Mucopolysaccharidosis Type IIBMC medical genomics Year: 2021
Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported.
Inhibition of Iduronic Acid Biosynthesis by Ebselen Reduces Glycosaminoglycan Accumulation in Mucopolysaccharidosis Type I FibroblastsGlycobiology Year: 2021
Open-Label Phase 1/2 Study of Vestronidase Alfa for Mucopolysaccharidosis VIIMolecular genetics and metabolism reports Year: 2021
Disease Burden, Management Patterns and Multidisciplinary Clinical Approaches for Patients With MPS IVA and VI in Selected Latin American CountriesMolecular genetics and metabolism reports Year: 2021
There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America (Colombia, Ecuador, Mexico, Peru).
Understanding Mucopolysaccharidosis Type VII (MPS VII) or Sly SyndromeUltragenyx Pharmaceutical Inc. Year: N/A
A Guide to Understanding MPS VI (Maroteaux-Lamy Syndrome)National MPS Society Year: 2021
A Guide to Understanding MPS IV (Morquio Syndrome)National MPS Society Year: 2021
Are You Considering Stem Cell Transplantation? Questions to Ask Your ProviderNational MPS Society Year: 2020
A Guide to Understanding MPS I (Hurler, Hurler-Scheie, and Scheie Syndromes)National MPS Society Year: 2021
Hunter Syndrome – After Diagnosis: What Next?Takeda Year: 2020
Cervical Disorders in Mucopolysaccharidosis IVA-Morquio DiseaseWorld Neurosurgery Year: 2021
Genome Editing in Mucopolysaccharidoses and MucolipidosesProgress in Molecular Biology and Translational Science Year: 2021
MPSBase: Comprehensive Repository of Differentially Expressed Genes for MucopolysaccharidosesMolecular genetics and metabolism Year: 2021
Real-World Data Assessment of Safety of Home-Based and Hospital/Outpatient-Based laronidase Enzyme Replacement Therapy for Mucopolysaccharidosis IMolecular genetics and metabolism reports Year: 2021
Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis Type IMolecular genetics and metabolism Year: 2021
Musculoskeletal findings in MPS can progress after enzyme replacement. Our aim was to examine synovial recesses, tendons, retinacula and pulleys using ultrasonography for structural and inflammatory changes.
Corneal Cloudiness: A Presenting Feature of Mucopolysaccharidosis Type IIndian journal of pediatrics Year: 2021
Issues of COVID-19-Related Distance Learning for Children With Neuronopathic MucopolysaccharidosesMolecular genetics and metabolism
Awake Airway Endoscopy in Mucopolysaccharidosis: A Case ReportBrazilian Journal of Anesthesiology (Elsevier) Year: 2021
Mucopolysaccharidoses Type I Gene TherapyJournal of inherited metabolic disease Year: 2021
Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type IFrontiers in Pediatrics Year: 2021
Surgical Management of an Aortic Root Dilatation in a Patient Suffering From Hunter SyndromeInteractive Cardiovascular and Thoracic Surgery Year: 2021
Early and Late Brain Resonance Findings of Two Siblings With Hunter SyndromeRevista de Neurologia Year: 2021
Mucopolysaccharidosis type II (MPS II) is a lysosomal disease caused by deficiency of the enzyme iduronate-2-sulfatase (IDS), linked to the X chromosome, producing a wide spectrum of clinical manifestations.