• A <em>de novo</em> homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis
• A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management
• A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis
• A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII
• A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites
• A rare late progression form of Sly syndrome mucopolysaccharidosis
• Acquiring high expression of suilysin enable non-epidemic <em>Streptococccus suis</em> to cause streptococcal toxic shock-like syndrome (STSLS) through NLRP3 inflammasome hyperactivation
• Acquiring high expression of suilysin enable non-epidemic Streptococccus suis to cause streptococcal toxic shock-like syndrome (STSLS) through NLRP3 inflammasome hyperactivation
• Adipose deficiency and aberrant autophagy in a Drosophila model of MPS VII is corrected by pharmacological stimulators of mTOR
• Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score
• Altered IHH signaling contributes to reduced chondrocyte proliferation in the growth plate of MPS VII mice
• Ancestral SARS-CoV-2, but not Omicron, replicates less efficiently in primary pediatric nasal epithelial cells
• Apigenin and Ampicillin as Combined Strategy to Treat Severe <em>Streptococcus suis</em> Infection
• Associations of systemic oxidative stress with functional outcomes after ST-segment elevation myocardial infarction
• Awake airway endoscopy in mucopolysaccharidosis: a case report
• Baicalein Ameliorates <em>Streptococcus suis</em>-Induced Infection In Vitro and In Vivo
• Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center
• Blood and bone marrow findings in two pups with mucopolysaccharidosis type VII
• C-Type Natriuretic Peptide Restores Growth Impairment Under Enzyme Replacement in Mice With Mucopolysaccharidosis VII
• Canagliflozin Inhibited the Activity of Hemolysin and Reduced the Inflammatory Response Caused by <em>Streptococcus suis</em>
• Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses
• Causes of death in mucopolysaccharidoses
• Cell cycle progression is disrupted in murine MPS VII growth plate leading to reduced chondrocyte proliferation and transition to hypertrophy
• Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases
• Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
• Clinical features of fetal hydrothorax associated with mucopolysaccharidosis-VII
• Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
• Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study
• Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient
• Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses
• Contribution of Nlrp3 Inflammasome Activation Mediated by Suilysin to Streptococcal Toxic Shock-like Syndrome
• Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]
• COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience
• COVID-19: Cytokine storm modulation/blockade with oral polyvalent immunoglobulins (PVIG, KMP01D): A potential and safe therapeutic agent (<em>Primum nil nocere</em>)
• Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach
• Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
• Development of a novel angiotensin converting enzyme 2 stimulator with broad implications in SARS-CoV2 and type 1 diabetes
• Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)
• Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience
• Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
• Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs
• Effective Antibacterial and Antihemolysin Activities of Ellipticine Hydrochloride against Streptococcus suis in a Mouse Model
• Efficacy and safety of sparsentan versus irbesartan in patients with IgA nephropathy (PROTECT): 2-year results from a randomised, active-controlled, phase 3 trial
• Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
• Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities
• Epiphyseal cartilage canal architecture and extracellular matrix remodeling in mucopolysaccharidosis VII dogs at the onset of postnatal growth
• Estimated birth prevalence of mucopolysaccharidoses in Brazil
• Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases
• First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation
• 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
• Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies
• Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis
• Growth patterns in patients with mucopolysaccharidosis VII
• Gut microbes in pediatric ALL survivorship
• Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases
• Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population
• Intrathecal AAVrh10 corrects biochemical and histological hallmarks of mucopolysaccharidosis VII mice and improves behavior and survival
• Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations
• Isopropoxy Benzene Guanidine Ameliorates <em>Streptococcus suis</em> Infection In Vivo and In Vitro
• Lemierre Syndrome in a Patient With Splenectomy Secondary to Pyruvate Kinase Deficiency, Complicated by Heparin Resistance
• Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects &lt; 5 years with mucopolysaccharidosis VII
• Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII
• Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis
• Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study
• Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review
• Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease
• MPS VII - Extending the classical phenotype
• Mucopolysaccharidosis III: Molecular basis and treatment
• Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation
• Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
• Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing
• Mucopolysaccharidosis type VII diagnosed from a peripheral blood smear
• Mucopolysaccharidosis VI in a European Shorthair cat: Neurological presentation, computed tomography findings and genetic investigation
• Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
• Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots
• Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in <em>GUSB</em> Gene
• Novel vectors and approaches for gene therapy in liver diseases
• Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII
• Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses
• Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey
• Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period
• Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in <em>GUSB</em> gene
• Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
• Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity
• Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry
• Rare disease therapeutics: The future of medical genetics in a changing landscape
• Rare to "Ubiquitinous": Alveolar Capillary Dysplasia, FOXF1, and a Sly Approach to Angiogenesis
• Rationale and Design of the Groningen Intervention Study for the Preservation of Cardiac Function with Sodium Thiosulfate after St-segment Elevation Myocardial Infarction (GIPS-IV) trial
• Self-complementary AAV vector therapy for treating corneal cloudiness of mucopolysaccharidosis type VII (MPS VII)
• Specific GAG ratios in the diagnosis of mucopolysaccharidoses
• The beta-glucuronidase intracisternal A particle insertion model results in similar overall MPSVII phenotype as the single base deletion model when on the same C57BL/6J mouse background
• The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature
• The intermediate outcomes of delegation of obligations of medicinal support of patients with rare diseases to the Federal level in 2019-2020
• The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII
• The natural history of neurocognition in MPS disorders: A review
• Tolerance induction and microglial engraftment after fetal therapy without conditioning in mice with Mucopolysaccharidosis type VII
• Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis
• Ultrastructural analysis of different skeletal cell types in mucopolysaccharidosis dogs at the onset of postnatal growth
• Vestronidase alfa: Recombinant human beta-glucuronidase as an enzyme replacement therapy for MPS VII
• Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII