Associated Papers
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.
Noyan B et al.
Molecular Syndromology, 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
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.
Lin HY et al.
Diagnostics (basel, Switzerland), 2019
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 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
29979746 (PubMed )
Supplement: pone.0200008.s004.xlsx › Sheet1
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
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
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