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
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
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
Kim MS et al.
Journal of Personalized Medicine, 2022
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Ugrinov KG et al.
Plos One, 2015
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
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
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
Gabrielli O et al.
American Journal of Medical Genetics. Part A, 2005
Expression and functional characterization of human mutant sulfamidase in insect cells.
Montfort M et al.
Molecular Genetics and Metabolism, 2004
An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene.
Miyazaki T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2002
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