Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome) Latest Advances

Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.

Journal: American journal of medical genetics. Part A

Published: January 16, 2026

Retinal Phenotype in Mucopolysaccharidosis Type III.

Journal: American journal of ophthalmology

Published: December 29, 2025

Evaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB.

Journal: Biomolecules

Published: December 20, 2025

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation.

Journal: BMC pediatrics

Published: December 01, 2025

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Journal: Molecular genetics and metabolism

Published: November 26, 2025

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

Journal: Diseases (Basel, Switzerland)

Published: October 28, 2025

Neuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome.

Journal: Children (Basel, Switzerland)

Published: October 15, 2025

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

Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice.

Journal: The Journal of clinical investigation

Published: August 28, 2025

Tiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome.

Journal: Annals of medicine and surgery (2012)

Published: August 07, 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

Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome) Latest Advances

Find the Latest Research About Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)

Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.

Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.

Retinal Phenotype in Mucopolysaccharidosis Type III.

Retinal Phenotype in Mucopolysaccharidosis Type III.

Evaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB.

Evaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB.

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation.

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation.

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

Neuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome.

Neuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome.

A case of mucopolysaccharidosis type ⅢA with ventricular hypertrophy as the first clinical presentation

A case of mucopolysaccharidosis type ⅢA with ventricular hypertrophy as the first clinical presentation

Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice.

Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice.

Tiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome.

Tiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome.

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.

Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.

Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.