Associated Papers
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene.
Lee N et al.
Stem Cell Research, 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
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Murgasova L et al.
Virchows Archiv : an International Journal of Pathology, 2024
[Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type ⅢA].
Zuo H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
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
[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].
Zhang WM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
Lee-Chen GJ et al.
Clinical Genetics, 2002
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