• <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
• AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV-mRNA cargo
• 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
• 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
• Anakinra in Sanfilippo syndrome: a phase 1/2 trial
• 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
• Author Correction: Anakinra in Sanfilippo syndrome: a phase 1/2 trial
• Bilateral Cryptococcal Choroiditis in a Human Immunodeficiency Virus-Infected Patient: A Case Report
• 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
• Causes of death in mucopolysaccharidoses
• 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
• Child Neurology: Mucopolysaccharidosis IIID: Evidence From Ultrastructural and Genomic Study
• Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series
• Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
• Comparison of "IN-REC-SUR-E" and LISA in preterm neonates with respiratory distress syndrome: a randomized controlled trial (IN-REC-LISA trial)
• Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review
• 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
• 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
• European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry
• Evaluation of cardiac findings in mucopolysaccharidosis
• Evaluation of neuroretina following i.v. or intra-CSF AAV9 gene replacement in mice with MPS IIIA, a childhood dementia
• 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?
• Factors Associated with Prolonged SARS-CoV-2 Viral Positivity in an Italian Cohort of Hospitalized Patients
• 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
• Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis
• Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC
• 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
• Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB
• 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
• Importance of lysosomal storage diseases in rheumatology
• Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III)
• Increasing Sanfilippo Syndrome Awareness through Children's Literature and Music
• Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations
• 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
• 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
• Mucopolysaccharidosis (MPS IIIA) mice have increased lung compliance and airway resistance, decreased diaphragm strength, and no change in alveolar structure
• 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 of mucopolysaccharidosis type III in a series of Colombian patients
• Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA
• Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil
• Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome
• Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
• Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study
• Photobiomodulation in the infrared spectrum reverses the expansion of circulating natural killer cells and brain microglial activation in Sanfilippo mice
• Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies
• Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry
• Repetitive, non-invasive imaging of neurodegeneration, and prevention of it with gene replacement, in mice with Sanfilippo syndrome
• Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature
• Safety, pharmacokinetics and CNS distribution of tralesinidase alfa administered via intracerebroventricular infusion to juvenile cynomolgus monkeys
• Sanfilippo syndrome: consensus guidelines for clinical care
• 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
• Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome
• Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis
• Systemic immune challenge exacerbates neurodegeneration in a model of neurological lysosomal disease
• 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
• Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses