Disease: Sanfilippo Syndrome
- <em>N</em>-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome
- 15 Retinopathy in patients with mucopolysaccharidosis
- A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl
- A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
- Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA
- Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models
- Adults with lysosomal storage diseases in the undiagnosed diseases network
- Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia
- An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome)
- An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis
- Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
- Anesthesiological management of Brugada syndrome patients: A systematic review
- Antihypertensive Medication Adherence and the Risk of Vascular Events and Falls After Stroke: A Real-World Effectiveness Study Using Linked Registry Data
- Bilateral Cryptococcal Choroiditis in a Human Immunodeficiency Virus-Infected Patient: A Case Report
- Binding of heparan sulfate to human cystatin C modulates inhibition of cathepsin L: Putative consequences in mucopolysaccharidosis
- Biochemical diagnosis of Sanfilippo disorder types A and B
- Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood-onset dementia
- Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease
- Cannabidiol (Epidyolex) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
- Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
- Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II
- Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases
- Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB
- Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study
- Child Neurology: Mucopolysaccharidosis IIID: Evidence From Ultrastructural and Genomic Study
- Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
- Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
- Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector
- Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB
- Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentation
- Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation
- Echocardiography phenotypes of right ventricular involvement in COVID-19 ARDS patients and ICU mortality: post-hoc (exploratory) analysis of repeated data from the ECHO-COVID study
- Economic Burden of Sanfilippo Syndrome in the United States
- Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial
- Effects of Heparan sulfate acetyl-CoA: Alpha-glucosaminide N-acetyltransferase (HGSNAT) inactivation on the structure and function of epithelial and immune cells of the testis and epididymis and sperm parameters in adult mice
- Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III
- Efficacy and Safety of MSC Cell Therapies for Hospitalized Patients with COVID-19: A Systematic Review and Meta-Analysis
- Evaluation of cardiac findings in mucopolysaccharidosis
- Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
- Expanding the phenotypic and genotypic spectrum of patients with <em>HGSNAT</em>-related retinopathy
- Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report
- Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?
- Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice
- Filipin complex-reactive brain lesions: a cautionary tale
- First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
- Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA
- Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores
- Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type A
- Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type ⅢA
- Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations
- Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT
- Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis
- Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC
- Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
- Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
- Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing
- IgG-cleavage protein allows therapeutic AAV gene delivery in passively immunized MPS IIIA mice
- IL-1 Superfamily Member (<em>IL-1A</em>, <em>IL-1B</em> and <em>IL-18</em>) Genetic Variants Influence Susceptibility and Clinical Course of Mediterranean Spotter Fever
- Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation
- Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III)
- Increasing Sanfilippo Syndrome Awareness through Children's Literature and Music
- Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction
- Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC
- Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
- Investigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy
- Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
- Long-Term Associations between Human Cytomegalovirus Antibody Levels with All-Cause Mortality and Cardiovascular Outcomes in an Australian Community-Based Cohort
- Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II
- Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
- Mucopolysaccharidosis (MPS IIIA) mice have increased lung compliance and airways resistance, decreased diaphragm strength and no change in alveolar structure
- Mucopolysaccharidosis type III (subtype IIIB) diagnosis as a spectrum disorder: A case report from Kosovo
- Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene
- N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome
- Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III
- Natural history of mucopolysaccharidosis type III in a series of Colombian patients
- Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA
- Neurological Consequences, Mental Health, Physical Care, and Appropriate Nutrition in Long-COVID-19
- Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil
- Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
- Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses
- Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study
- Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies
- Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry
- Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey
- Repetitive, non-invasive imaging of neurodegeneration, and prevention of it with gene replacement, in mice with Sanfilippo syndrome
- Safety, pharmacokinetics and CNS distribution of tralesinidase alfa administered via intracerebroventricular infusion to juvenile cynomolgus monkeys
- Sanfilippo syndrome: consensus guidelines for clinical care
- Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach
- Severe central nervous system demyelination in Sanfilippo disease
- Severe reactive infectious mucocutaneous eruption mimicking drug-induced epidermal necrolysis triggered by norovirus
- Sex- and Age-Specific Differences in Risk Profiles and Early Outcomes in Adults With Acute Coronary Syndromes
- Short-term DAPT after coronary stenting has similar ischemic and bleeding outcomes as long-term DAPT: a 5-year population-based cohort study
- Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis
- Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots
- The 100 Most Cited Kluver-Bucy Research Articles: A Bibliometric Analysis
- The Association of Serotonin Toxicity with Combination Linezolid-Serotonergic Agent Therapy: A Systematic Review and Meta-Analysis
- The significance of triple-capsid-mutant AAV8 for treatment of Sanfilippo Syndrome Type B
- Tissue doppler echocardiographic evaluation of cardiac functions in children with mucopolysaccharidosis type III disease
- Tralesinidase Alfa Enzyme Replacement Therapy Prevents Disease Manifestations in a Canine Model of Mucopolysaccharidosis Type IIIB
- Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses