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Last Updated: 10/31/2025
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Found 185 publications
Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.
Journal: Diagnostics (Basel, Switzerland)
Published: August 06, 2025
Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.
Journal: Molecular biology reports
Published: July 22, 2025
Heparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice.
Journal: Cell death discovery
Published: May 12, 2025
Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.
Journal: Molecular biology reports
Published: April 07, 2025
Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels.
Journal: Frontiers in bioscience (Landmark edition)
Published: September 30, 2024
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.
Journal: Scientific reports
Published: December 13, 2023
Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB.
Journal: Journal of neurodevelopmental disorders
Published: September 24, 2023
Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice.
Journal: International journal of molecular sciences
Published: August 06, 2023
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 28, 2022
A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.
Journal: Cureus
Published: October 20, 2022
Last Updated: 10/31/2025