Associated Papers
Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis.
Uribe-Ardila A et al.
Jimd Reports, 2022
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
33673364 (PubMed )
Supplement: diagnostics-11-00294-s001.xlsx › TableS2
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Tomanin R et al.
Human Mutation, 2018
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
Uttarilli A et al.
Gene, 2017
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Uttarilli A et al.
The Indian Journal of Medical Research, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.
Ferla R et al.
Human Gene Therapy, 2015
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