Associated Papers
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.
Mauri V et al.
Plos One, 2013
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
Weber B et al.
European Journal of Human Genetics : Ejhg, 1999
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
The molecular basis of Sanfilippo syndrome type B.
Zhao HG et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
Select a paper to view details