• 15 Retinopathy in patients with mucopolysaccharidosis
• 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
• 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
• 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
• 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, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
• 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
• 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
• 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
• 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
• 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 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 Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB
• Importance of lysosomal storage diseases in rheumatology
• Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III)
• 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
• Mucopolysaccharidosis (MPS IIIA) mice have increased lung compliance and airway 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
• Natural history of mucopolysaccharidosis type III in a series of Colombian patients
• Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome
• 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
• Severe central nervous system demyelination in Sanfilippo disease
• 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
• Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses