Associated Papers
Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.
Vechkasova AO et al.
World Journal of Clinical Pediatrics, 2025
Mucopolysaccharidosis VI: Therapeutic strategies and perspectives.
Leal AF et al.
Molecular Genetics and Metabolism, 2025
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Zhang W et al.
Italian Journal of Pediatrics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F et al.
International Journal of Molecular Sciences, 2021
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 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
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes.
Hendrickx G et al.
Human Molecular Genetics, 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
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P et al.
Frontiers in Bioscience (landmark Edition), 2017
Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.
Keeling KM
Diseases (basel, Switzerland), 2016
The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.
Kaissi AA et al.
Medicine, 2016
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
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
Zheng J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Brands MM et al.
Orphanet Journal of Rare Diseases, 2013
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
Bartolomeo R et al.
Journal of Inherited Metabolic Disease, 2013
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Al-Jasmi FA et al.
Jimd Reports, 2013
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Karageorgos L et al.
Human Mutation, 2004