Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
Bugiani M et al.
Annals of Clinical and Translational Neurology, 2023
Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.
Harmatz P et al.
Molecular Genetics and Metabolism, 2022
A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D et al.
Bmc Neurology, 2022
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Wijburg FA et al.
Molecular Genetics and Metabolism, 2022
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.
Lehmann RJ et al.
Molecular Genetics and Metabolism Reports, 2021
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Douek AM et al.
International Journal of Molecular Sciences, 2021
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG et al.
Molecular Genetics and Metabolism, 2021
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Nijmeijer SCM et al.
Orphanet Journal of Rare Diseases, 2019
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Wijburg FA et al.
Molecular Genetics and Metabolism, 2019
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
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
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Ugrinov KG et al.
Plos One, 2015
Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial.
Tardieu M et al.
Human Gene Therapy, 2014
[Genetic aspects of mucopolysaccharidoses].
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Muschol N et al.
American Journal of Medical Genetics. Part A, 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
Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period.
Malm G et al.
Acta Paediatrica (oslo, Norway : 1992), 2010
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.
Sleat DE et al.
Molecular & Cellular Proteomics : Mcp, 2009
Gene symbol: SGSH. Disease: Sanfilippo syndrome type A.
Zhang W et al.
Human Genetics, 2008
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Meyer A et al.
Human Mutation, 2008
Sanfilippo syndrome: a mini-review.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2008
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
Cormier-Daire V et al.
Journal of Medical Genetics, 2000
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley CE et al.
Journal of Medical Genetics, 2000
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Montfort M et al.
Human Mutation, 1998
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
Bunge S et al.
Human Mutation, 1997
Correction of murine mucopolysaccharidosis type IIIA central nervous system pathology by intracerebroventricular lentiviral-mediated gene delivery.
McIntyre C et al.
The Journal of Gene Medicine, 0