• <em>N</em>-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome
• 15 Retinopathy in patients with mucopolysaccharidosis
• A case report of Sanfilippo syndrome - the long way to diagnosis
• 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
• 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
• An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
• Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
• Bayesian model of disease progression in mucopolysaccaridosis IIIA
• 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
• 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
• 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
• Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review
• 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
• 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
• Evaluation of bone health in patients with mucopolysaccharidosis
• 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
• First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
• Fluoxetine ameliorates mucopolysaccharidosis type IIIA
• 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
• Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC
• Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene
• 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 Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB
• IgG-cleavage protein allows therapeutic AAV gene delivery in passively immunized MPS IIIA mice
• Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation
• Importance of lysosomal storage diseases in rheumatology
• Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III)
• 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 open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II
• Long-term open-label phase I/II extension study of intrathecal idursulfase-IT in the treatment of neuronopathic mucopolysaccharidosis II
• Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
• 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
• Multiple-mouse magnetic resonance imaging with cryogenic radiofrequency probes for evaluation of brain development
• Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III
• Natural history of mucopolysaccharidosis type III in a series of Colombian patients
• 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
• 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
• Pharmacological property, mechanism of action and clinical study results of Pabinafusp Alfa (Genetical Recombination) (IZCARGO() I.V. Infusion 10 mg) as the therapeutic for Mucopolysaccharidosis type-II (Hunter syndrome)
• Pharmacological property, mechanism of action and clinical study results of Pabinafusp Alfa (Genetical Recombination) (IZCARGO^® I.V. Infusion 10 mg) as the therapeutic for Mucopolysaccharidosis type-II (Hunter 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
• 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
• Sanfilippo syndrome type A: early cardiac involvement of two patients with cardiac manifestations
• Sanfilippo syndrome: consensus guidelines for clinical care
• Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach
• Severe central nervous system demyelination in Sanfilippo disease
• Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III
• 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
• The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
• 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
• Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
• Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses
• What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?