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Last Updated: 10/31/2025
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Found 105 publications
Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.
Journal: Orphanet journal of rare diseases
Published: March 14, 2025
Synthesis of the endogenous non-reducing end heparan sulfate disaccharide for newborn screening and diagnosis of Mucopolysaccharidosis type IIIA.
Journal: Carbohydrate research
Published: March 03, 2025
Survey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil Network.
Journal: American journal of medical genetics. Part A
Published: December 25, 2024
Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient.
Journal: European child & adolescent psychiatry
Published: November 20, 2024
Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene.
Journal: Stem cell research
Published: October 23, 2024
Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients.
Journal: Molecular genetics and metabolism reports
Published: June 07, 2024
Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations.
Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations.
Journal: Molecular genetics and metabolism reports
Published: January 22, 2024
Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA.
Journal: Molecular genetics and metabolism
Published: October 01, 2023
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
Journal: American journal of medical genetics. Part A
Published: September 27, 2023
Filipin complex-reactive brain lesions: a cautionary tale.
Journal: Neuropathology and applied neurobiology
Published: September 27, 2023
Low-molecular weight sulfated marine polysaccharides: Promising molecules to prevent neurodegeneration in mucopolysaccharidosis IIIA?
Journal: Carbohydrate polymers
Published: April 26, 2023
Last Updated: 10/31/2025