Associated Papers
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
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Wijburg FA et al.
Molecular Genetics and Metabolism, 2022
Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.
Shafaat M et al.
Metabolic Brain Disease, 2019
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Knottnerus SJG et al.
Annals of Neurology, 2017
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
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
Analysis of Sanfilippo A gene mutations in a large pedigree.
Di Natale P et al.
Clinical Genetics, 2003
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
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