Associated Papers
Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.
Seo JH et al.
Molecular Genetics and Metabolism Reports, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B et al.
Journal of Inherited Metabolic Disease, 2021
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2021
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
Tanwar H et al.
Metabolic Brain Disease, 2019
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 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
Sanfilippo syndrome: Overall review.
Andrade F et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
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
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Protein homeostasis as a therapeutic target for diseases of protein conformation.
Calamini B et al.
Current Topics in Medicinal Chemistry, 2012
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
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
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis.
Mu TW et al.
Plos Biology, 2008
Expression and functional characterization of human mutant sulfamidase in insect cells.
Montfort M et al.
Molecular Genetics and Metabolism, 2004
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Muschol N et al.
Human Mutation, 2004
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
Van Hove JL et al.
American Journal of Medical Genetics. Part A, 2003
Analysis of Sanfilippo A gene mutations in a large pedigree.
Di Natale P et al.
Clinical Genetics, 2003
Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands.
Rady PL et al.
Genetic Testing, 2002
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
Chabás A et al.
American Journal of Medical Genetics, 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
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
Perkins KJ et al.
The Journal of Biological Chemistry, 1999
Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele.
Di Natale P et al.
Prenatal Diagnosis, 1999
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Di Natale P et al.
Human Mutation, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Montfort M et al.
Human Mutation, 1998
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Weber B et al.
Human Molecular Genetics, 1997
Molecular defects in Sanfilippo syndrome type A.
Blanch L et al.
Human Molecular Genetics, 1997
Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.
Roberts AL et al.
Molecular Genetics and Metabolism, 0