Disease: Sly syndrome
- 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 < 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