Associated Papers
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.
Fateen E et al.
Molecular Biology Reports, 2025
Lynch Syndrome-associated Genomic Variants.
Botea R et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 2024
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.
Almenabawy N et al.
American Journal of Medical Genetics. Part A, 2023
Mucopolysaccharidosis type III (subtype IIIB) diagnosis as a spectrum disorder: A case report from Kosovo.
Spahiu L et al.
Folia Medica, 2023
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
Okur I et al.
The Journal of Pediatrics, 2022
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA et al.
American Journal of Medical Genetics. Part A, 2022
Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.
do Valle DA et al.
Frontiers in Neurology, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B.
Birrane G et al.
Journal of Structural Biology, 2019
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.
Whitley CB et al.
The Journal of Pediatrics, 2018
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
Meijer OLM et al.
Journal of Inherited Metabolic Disease, 2016
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM et al.
Journal of Inherited Metabolic Disease, 2013
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.
Mauri V et al.
Plos One, 2013
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
Sanfilippo B syndrome: molecular defects in Greek patients.
Beesley C et al.
Clinical Genetics, 2004
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
Bunge S et al.
Journal of Medical Genetics, 1999
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Beesley CE et al.
Journal of Medical Genetics, 1998
Genotype-phenotype correspondence in Sanfilippo syndrome type B.
Zhao HG et al.
American Journal of Human Genetics, 1998
NAGLU mutations underlying Sanfilippo syndrome type B.
Schmidtchen A et al.
American Journal of Human Genetics, 1998