Associated Papers
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.
Fateen E et al.
Orphanet Journal of Rare Diseases, 2025
The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.
Barbero-Herranz R et al.
International Journal of Molecular Sciences, 2024
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Knottnerus SJG et al.
Annals of Neurology, 2017
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
Lau AA et al.
Journal of Inherited Metabolic Disease, 2017
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
Shapiro EG et al.
The Journal of Pediatrics, 2016
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
Ouesleti S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
Héron B et al.
American Journal of Medical Genetics. Part A, 2011
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
Valstar MJ et al.
Annals of Neurology, 2010
Sanfilippo syndrome: a mini-review.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2008
Expression and functional characterization of human mutant sulfamidase in insect cells.
Montfort M et al.
Molecular Genetics and Metabolism, 2004
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
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