• <em>N</em>-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome
• A case report of Sanfilippo syndrome - the long way to diagnosis
• A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
• A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
• A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II
• 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
• 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 heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders
• An Engineered <em>sgsh</em> Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA
• An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA
• An Uncommon Presentation of Mucopolysaccharidosis Type IIIb
• Binding of heparan sulfate to human cystatin C modulates inhibition of cathepsin L: Putative consequences in mucopolysaccharidosis
• Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome
• Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA
• BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis
• Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
• Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions
• Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report
• Characterization of a spontaneous cell line from primary mouse fibroblasts as a model to study Sanfilippo syndrome
• 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
• Collection of cerebrospinal fluid from murine lateral ventricles for biomarker determination in mucopolysaccharidosis type IIIA
• Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses
• Competitive binding of extracellular accumulated heparan sulfate reduces lysosomal storage defects and triggers neuronal differentiation in a model of Mucopolysaccharidosis IIIB
• Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector
• Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells
• 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 disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking alpha-synuclein
• Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein
• Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation
• Effect of glycosaminoglycans accumulation on the non-oxidative sulfur metabolism in mouse model of Sanfilippo syndrome, type B
• 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
• Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients
• Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human alpha-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice
• Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-<em>N</em>-Acetylglucosamine-6-Sulfatase in Neonatal Mice
• Evaluation of biomarkers for Sanfilippo syndrome
• Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-alpha-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB
• Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB
• Fluoxetine ameliorates mucopolysaccharidosis type IIIA
• Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA
• Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature
• Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type A
• Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type ⅢA
• Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
• Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT
• Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
• Haematopoietic stem cell gene therapy with IL-1Ra rescues cognitive loss in mucopolysaccharidosis IIIA
• Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC
• HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes
• High dose genistein in Sanfilippo syndrome: A randomised controlled trial
• 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 Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB
• Iminosugar C-Glycosides Work as Pharmacological Chaperones of NAGLU, a Glycosidase Involved in MPS IIIB Rare Disease*
• Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats
• Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation
• Increased Alveolar Heparan Sulphate and Reduced Pulmonary Surfactant Amount and Function in the Mucopolysaccharidosis IIIA Mouse
• Intestinal lymphangiectasia in a patient with Sanfilippo B syndrome
• 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 heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial
• Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice
• Is the eye a window to the brain in Sanfilippo syndrome?
• Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
• Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
• Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
• Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease
• Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease
• 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
• Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development
• Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis
• Novel therapies for mucopolysaccharidosis type III
• Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses
• 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)
• Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain
• Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry
• Retinal Degeneration in MPS-IIIA Mouse Model
• Robust LC-MS/MS methods for analysis of heparan sulfate levels in CSF and brain for application in studies of MPS IIIA
• Sanfilippo syndrome type A: early cardiac involvement of two patients with cardiac manifestations
• Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
• Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches
• Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach
• Severe central nervous system demyelination in Sanfilippo disease
• Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome
• Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B
• Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome
• Synthetic Disaccharide Standards Enable Quantitative Analysis of Stored Heparan Sulfate in MPS IIIA Murine Brain Regions
• Systemic immune challenge exacerbates neurodegeneration in a model of neurological lysosomal disease
• Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease
• Temporospatial Development of Neuropathologic Findings in a Canine Model of Mucopolysaccharidosis IIIB
• The First Reported Case of Hyperreninemic Hypoaldosteronism Due to Mucopolysaccharidosis Disorder
• Tralesinidase Alfa Enzyme Replacement Therapy Prevents Disease Manifestations in a Canine Model of Mucopolysaccharidosis Type IIIB
• Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C&gt;T/c.889C&gt;T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene
• What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?