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Last Updated: 10/31/2025
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Found 974 publications
A case of mucopolysaccharidosis type ⅢA with ventricular hypertrophy as the first clinical presentation
Journal: Zhonghua xin xue guan bing za zhi
Published: September 15, 2025
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
Correction: Ashby et al. Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice. Int. J. Mol. Sci. 2023, 24, 13988.
Journal: International journal of molecular sciences
Published: July 16, 2025
The Neuroimmune Landscape of the Lysosomal Storage Disorder Sanfilippo Syndrome.
Journal: BioEssays : news and reviews in molecular, cellular and developmental biology
Published: July 01, 2025
Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain proteins hypersialylation.
Journal: The Journal of clinical investigation
Published: June 20, 2025
Efficient synthesis of fluorogenic substrates for mucopolysaccharidosis (MPS) IIIA and IIIB via aromatic α-glycosylation with thioglycosyl donors.
Journal: Organic & biomolecular chemistry
Published: June 18, 2025
Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.
Journal: Journal of vitreoretinal diseases
Published: May 13, 2025
Heparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice.
Journal: Cell death discovery
Published: May 12, 2025
A case report on the treatment of autoimmune hemolytic anemia after CBT by daratumumab in a mucopolysaccharidosis type III patient.
Journal: Medicine
Published: April 21, 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
Mucopolysaccharidosis Type IIIA Presenting as Hypertrophic Cardiomyopathy.
Journal: Circulation. Heart failure
Published: March 31, 2025
Last Updated: 10/31/2025