Associated Papers
Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression.
Broeders M et al.
Frontiers in Bioengineering and Biotechnology, 2022
Genetic variants associated with diseases in Afghan population.
Zadran SK et al.
Molecular Genetics & Genomic Medicine, 2021
33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.
Broeders M et al.
Molecular Therapy. Methods & Clinical Development, 2020
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
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients.
Malekpour N et al.
Iranian Journal of Basic Medical Sciences, 2018
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
Ebbink BJ et al.
Journal of Inherited Metabolic Disease, 2016
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
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Brands MM et al.
Orphanet Journal of Rare Diseases, 2013
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